254237003: Aplasia of skin (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Aplasia of skin

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Aplasia of skin
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Aplasia of skin

\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Aplasia of skin
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Aplasia of skin

\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Aplasia of skin
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Aplasia of skin

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

378466010 Aplasia of skin en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

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 Only initial character 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

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Aplasia of skin	Is a	Congenital anomaly of skin (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Aplasia of skin	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Aplasia of skin	Finding site	Structure of skin region (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Aplasia of skin	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Aplasia of skin	Is a	Site-specific disorder of skin	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Aplasia of skin	Is a	Skin lesion	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Aplasia of skin	Associated morphology	Aplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Aplasia of skin	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Aplasia of skin	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Aplasia of skin	Associated morphology	Aplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Aplasia of skin	Is a	Disorder of skin (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Aplasia cutis congenita (disorder)	Is a	True	Aplasia of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
Total congenital alopecia	Is a	False	Aplasia of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
Dominant dystrophic epidermolysis bullosa with absence of skin (disorder)	Is a	False	Aplasia of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
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	Inferred relationship	Existential restriction modifier (core metadata concept)
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	Inferred relationship	Existential restriction modifier (core metadata concept)
Isolated congenital adermatoglyphia is a rare, genetic developmental defect during embryogenesis disorder characterised 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	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of eyelash	Is a	False	Aplasia of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital alopecia	Is a	False	Aplasia of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
Pseudoprogeria syndrome	Is a	True	Aplasia of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
Agenesis of cilia of eyelid	Is a	True	Aplasia of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
Agenesis of interphalangeal skin crease	Is a	True	Aplasia of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
Aplasia of nail unit (disorder)	Is a	True	Aplasia of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
Aplasia of palmar crease	Is a	True	Aplasia of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
Aplasia of sweat gland	Is a	True	Aplasia of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
Aplasia of skin of trunk	Is a	True	Aplasia of skin	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets