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723362004: Hereditary hypotrichosis simplex (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
3424238019 Hereditary hypotrichosis simplex en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424239010 Hypotrichosis simplex en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core


1 descendants. Search Descendants:

Expanded Value Set


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

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

This concept is not in any reference sets

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