Disorder of sex development with intellectual disability syndrome

disorder

SNOMED 719450007CUI C2931233

Overview

Disorder of sex development with intellectual disability syndrome 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.

Abnormal distribution of hair

Very frequent (80-99%)HP:0010720

Abnormality of the face

Very frequent (80-99%)HP:0000271

Decreased activity of gonads

Very frequent (80-99%)HP:0000135

Decreased bone mineral density Z score

Very frequent (80-99%)HP:0004349

Decreased height of philtrum

Very frequent (80-99%)HP:0000322

Decreased volume of lip vermillion

Very frequent (80-99%)HP:0000233

Downturned corners of mouth

Very frequent (80-99%)HP:0002714

Enophthalmos

Very frequent (80-99%)HP:0000490

Genu valga

Very frequent (80-99%)HP:0002857

Hunched back

Very frequent (80-99%)HP:0002808

Hypoplasia of penis

Very frequent (80-99%)HP:0008736

Low posterior hair line

Very frequent (80-99%)HP:0002162

Microtia

Very frequent (80-99%)HP:0008551

Nasal hypoplasia

Very frequent (80-99%)HP:0003196

Nonprogressive mental retardation

Very frequent (80-99%)HP:0001249

Posteriorly angulated ears

Very frequent (80-99%)HP:0000358

Severe sensorineural deafness

Very frequent (80-99%)HP:0008625

Short neck

Very frequent (80-99%)HP:0000470

Shorter than typical length between neck and abdomen

Very frequent (80-99%)HP:0010306

Smaller than typical growth of scrotum

Very frequent (80-99%)HP:0000046

Spina bifida occulta

Very frequent (80-99%)HP:0003298

Unibrow

Very frequent (80-99%)HP:0000664

Wide-spaced nipples

Very frequent (80-99%)HP:0006610

Related Conditions

Pseudohermaphroditism(parent)

Multiple system malformation syndrome(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 719450007
UMLS CUI: C2931233
Fully Specified Name: Disorder of sex development with intellectual disability syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 23

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.