Phocomelia Schinzel type

disorder

SNOMED 715522000CUI C1848651

Overview

Phocomelia Schinzel type is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Absent/small extremities

Always present (100%)HP:0009815

Abnormal tibia morphology

Very frequent (80-99%)HP:0002992

Absent fibulae

Very frequent (80-99%)HP:0002990

Absent fingers

Very frequent (80-99%)HP:0009380

Absent ossification/absent ulna

Very frequent (80-99%)HP:0003982

Absent/small thighbone

Very frequent (80-99%)HP:0005613

Anteriorly displaced genitalia

Very frequent (80-99%)HP:0003252

Aplasia/Hypoplasia involving the pelvis

Very frequent (80-99%)HP:0009103

Aplasia/Hypoplasia of the sacrum

Very frequent (80-99%)HP:0008517

Bowed long bones

Very frequent (80-99%)HP:0006487

Lobster claw hand

Very frequent (80-99%)HP:0100257

Micromelia

Very frequent (80-99%)HP:0002983

Missing toes

Very frequent (80-99%)HP:0001849

Nail dysplasia

Very frequent (80-99%)HP:0002164

Short stature, severe disproportionate

Very frequent (80-99%)HP:0003498

Small feet

Very frequent (80-99%)HP:0001773

Absent or hypoplastic metatarsal

Frequent (30-79%)HP:0001964

Absent/underdeveloped ankle bone

Frequent (30-79%)HP:0008363

Absent/underdeveloped pubic bones

Frequent (30-79%)HP:0009104

Absent/underdeveloped wrist bones

Frequent (30-79%)HP:0006502

Aplasia/Hypoplasia of the phalanges of the toes

Frequent (30-79%)HP:0010173

Aplastic/hypoplastic metacarpals

Frequent (30-79%)HP:0005914

Barrel chest

Frequent (30-79%)HP:0001552

Bowed femura

Frequent (30-79%)HP:0002980

Broad collarbone

Frequent (30-79%)HP:0000916

Broad neck

Frequent (30-79%)HP:0000475

Broad ribs

Frequent (30-79%)HP:0000885

Elbow ankylosis

Frequent (30-79%)HP:0003070

Fixed flexion at the elbow joint

Frequent (30-79%)HP:0002987

Hypoplastic mandible

Frequent (30-79%)HP:0000347

Related Conditions

Phocomelia(parent)

Congenital anomaly of the pelvis(parent)

Recessive hereditary disorder (autosomal)(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 715522000
UMLS CUI: C1848651
Fully Specified Name: Phocomelia Schinzel type (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.