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254237003: Aplasia of skin (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2004. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
378466010 Aplasia of skin en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
645100011 Aplasia of skin (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5793151000241110 aplasie cutanée fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5793161000241113 aplasie de la peau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

35 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Aplasia of skin (disorder) Is a Congenital anomaly of skin false Inferred relationship Some
Aplasia of skin (disorder) Occurrence Congenital false Inferred relationship Some
Aplasia of skin (disorder) Finding site Structure of skin region false Inferred relationship Some
Aplasia of skin (disorder) Associated morphology anomalie congénitale false Inferred relationship Some
Aplasia of skin (disorder) Is a Site-specific disorder of skin false Inferred relationship Some
Aplasia of skin (disorder) Is a Skin lesion false Inferred relationship Some
Aplasia of skin (disorder) Associated morphology Aplasia false Inferred relationship Some 1
Aplasia of skin (disorder) Finding site Skin structure false Inferred relationship Some 1
Aplasia of skin (disorder) Finding site Skin structure true Inferred relationship Some 1
Aplasia of skin (disorder) Associated morphology Aplasia true Inferred relationship Some 1
Aplasia of skin (disorder) Is a Disorder of skin (disorder) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Aplasia cutis congenita (disorder) Is a True Aplasia of skin (disorder) Inferred relationship Some
Total congenital alopecia Is a False Aplasia of skin (disorder) Inferred relationship Some
Dominant dystrophic epidermolysis bullosa with absence of skin Is a False Aplasia of skin (disorder) Inferred relationship Some
A rare syndrome characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait. Is a False Aplasia of skin (disorder) Inferred relationship Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by aplasia cutis congenita of the scalp, breast anomalies ranging from hypothelia or athelia to amastia, and anomalies of the external ears. Variable clinical characteristics include nail and dental anomalies, syndactyly and camptodactyly of fingers and/or toes, sparse or absent secondary sexual hair, renal malformations, and facial dysmorphism. Cases with severe hypotonia and developmental delay have been reported. Is a True Aplasia of skin (disorder) Inferred relationship Some
Isolated congenital adermatoglyphia is a rare, genetic developmental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles. Is a False Aplasia of skin (disorder) Inferred relationship Some
Congenital absence of eyelash Is a False Aplasia of skin (disorder) Inferred relationship Some
Congenital alopecia Is a False Aplasia of skin (disorder) Inferred relationship Some
A rare syndromic intellectual deficiency characterized by psychomotor delay, severe progressive spastic quadriplegia, microcephaly, and a Hallermann-Streiff-like phenotype including absence of eyebrows and eyelashes, glaucoma, and small, beaked nose. Structural central nervous system abnormalities (cervical spinal cyst, occipital cranium bifidum occulatum) were additional findings. There have been no further descriptions in the literature since 1974. Is a True Aplasia of skin (disorder) Inferred relationship Some
Agenesis of cilia of eyelid (disorder) Is a True Aplasia of skin (disorder) Inferred relationship Some
Agenesis of interphalangeal skin crease (disorder) Is a True Aplasia of skin (disorder) Inferred relationship Some
Aplasia of nail unit Is a True Aplasia of skin (disorder) Inferred relationship Some
Aplasia of palmar crease Is a True Aplasia of skin (disorder) Inferred relationship Some
Aplasia of sweat gland Is a True Aplasia of skin (disorder) Inferred relationship Some
Aplasia of skin of trunk Is a True Aplasia of skin (disorder) Inferred relationship Some

This concept is not in any reference sets

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