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723362004: Hereditary hypotrichosis simplex (disorder)


Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3424237012 Hereditary hypotrichosis simplex (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3424238019 Hereditary hypotrichosis simplex en Synonym Active Case insensitive SNOMED CT core
3424239010 Hypotrichosis simplex en Synonym Active Case insensitive SNOMED CT core
3424240012 Disorder with characteristics of reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies. Prevalence is unknown but numerous large pedigrees with several affected members have been described. Both men and women are equally affected. Hair loss is diffuse and progressive and usually begins during early childhood. Body hair may also be sparse with variable involvement of the eyebrows, eyelashes, and pubic and axillary hair. There are no anomalies of the skin, nails or teeth. A scalp-limited form has also been reported with mutations in the corneodesmosin (CDSN) gene. Both autosomal dominant and recessive modes of transmission have been reported for this disorder. en Definition Active Case sensitive SNOMED CT core


1 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary hypotrichosis simplex Associated morphology Growth alteration true Inferred relationship Some 1
Hereditary hypotrichosis simplex Finding site Hair structure true Inferred relationship Some 1
Hereditary hypotrichosis simplex Is a Autosomal hereditary disorder true Inferred relationship Some
Hereditary hypotrichosis simplex Is a Hypotrichosis true Inferred relationship Some
Hereditary hypotrichosis simplex Is a Hereditary disorder of the integument true Inferred relationship Some
Hereditary hypotrichosis simplex Finding site Skin structure false Inferred relationship Some
Hereditary hypotrichosis simplex Finding site Hair structure false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Hereditary hypotrichosis simplex of scalp Is a True Hereditary hypotrichosis simplex Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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