35484002: Aplasia cutis congenita (disorder)

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

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

\Aplasia of skin\Aplasia cutis congenita

\Congenital anomaly of skin\Aplasia cutis congenita

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

\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Aplasia cutis congenita
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Aplasia of skin\Aplasia cutis congenita
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Aplasia cutis congenita
\Integumentary system finding\Skin finding (finding)\Disorder of skin (disorder)\Aplasia of skin\Aplasia cutis congenita
\Integumentary system finding\Skin finding (finding)\Disorder of skin (disorder)\Congenital anomaly of skin\Aplasia cutis congenita

\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Aplasia cutis congenita
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Aplasia cutis congenita
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Aplasia cutis congenita
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Aplasia of skin\Aplasia cutis congenita
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Aplasia cutis congenita
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Aplasia of skin\Aplasia cutis congenita
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Aplasia cutis congenita
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Aplasia cutis congenita

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Aplasia cutis congenita	Is a	Skin lesion (disorder)	false	Inferred relationship	Some
Aplasia cutis congenita	Is a	Aplasia of skin	true	Inferred relationship	Some
Aplasia cutis congenita	Is a	Nevi, hamartomas and developmental anomalies	false	Inferred relationship	Some
Aplasia cutis congenita	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Aplasia cutis congenita	Finding site	Skin structure	false	Inferred relationship	Some	1
Aplasia cutis congenita	Finding site	Structure of skin region	false	Inferred relationship	Some	1
Aplasia cutis congenita	Occurrence	Congenital	false	Inferred relationship	Some
Aplasia cutis congenita	Is a	Congenital malformation	false	Inferred relationship	Some
Aplasia cutis congenita	Is a	Site-specific disorder of skin	false	Inferred relationship	Some
Aplasia cutis congenita	Is a	Congenital anomaly of skin	true	Inferred relationship	Some
Aplasia cutis congenita	Finding site	Skin structure	false	Inferred relationship	Some	1
Aplasia cutis congenita	Finding site	Skin structure	false	Inferred relationship	Some	1
Aplasia cutis congenita	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Aplasia cutis congenita	Occurrence	Congenital	false	Inferred relationship	Some	2
Aplasia cutis congenita	Finding site	Skin structure	false	Inferred relationship	Some	2
Aplasia cutis congenita	Is a	Congenital absence	false	Inferred relationship	Some
Aplasia cutis congenita	Associated morphology	kongenit partiel mangel	false	Inferred relationship	Some	2
Aplasia cutis congenita	Occurrence	Congenital	true	Inferred relationship	Some	1
Aplasia cutis congenita	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Aplasia cutis congenita	Finding site	Skin part (body structure)	true	Inferred relationship	Some	1
Aplasia cutis congenita	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Aplasia cutis congenita	Associated morphology	Aplasia	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital absence of skin on scalp	Is a	True	Aplasia cutis congenita	Inferred relationship	Some
Congenital absence of skin on scalp with epidermal naevi	Is a	True	Aplasia cutis congenita	Inferred relationship	Some
Adams-Oliver syndrome	Is a	True	Aplasia cutis congenita	Inferred relationship	Some
Aplasia cutis congenita due to underlying malformation (Type 4) (disorder)	Is a	True	Aplasia cutis congenita	Inferred relationship	Some
Aplasia cutis congenita associated with fetus papyraceus (Type 5) (disorder)	Is a	True	Aplasia cutis congenita	Inferred relationship	Some
Aplasia cutis congenita in association with epidermolysis bullosa (Type 6) (disorder)	Is a	True	Aplasia cutis congenita	Inferred relationship	Some
Aplasia cutis congenita due to teratogenic drug (Type 7) (disorder)	Is a	True	Aplasia cutis congenita	Inferred relationship	Some
Aplasia cutis congenita following intra-uterine infection (Type 8) (disorder)	Is a	True	Aplasia cutis congenita	Inferred relationship	Some
Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)	Is a	True	Aplasia cutis congenita	Inferred relationship	Some
Aplasia cutis in Trisomy 13 syndrome (disorder)	Is a	True	Aplasia cutis congenita	Inferred relationship	Some
Aplasia cutis in Chromosome 4 short-arm deletion syndrome (Wolf-Hirschhorn) (disorder)	Is a	True	Aplasia cutis congenita	Inferred relationship	Some
Aplasia cutis in Johanson-Blizzard syndrome (disorder)	Is a	True	Aplasia cutis congenita	Inferred relationship	Some
A rare disorder characterized by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant.	Is a	True	Aplasia cutis congenita	Inferred relationship	Some
An extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterised by aplasia cutis congenita of the vertex and generalised oedema (as well as hypoproteinaemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985.	Is a	True	Aplasia cutis congenita	Inferred relationship	Some
A rare ectodermal dysplasia characterized by the association of epibulbar dermoids and aplasia cutis congenital.	Is a	True	Aplasia cutis congenita	Inferred relationship	Some
Autosomal recessive aplasia cutis congenita of limb (disorder)	Is a	False	Aplasia cutis congenita	Inferred relationship	Some
A rare skin disease characterized by the association of sebaceous nevus and aplasia cutis congenita (usually on the scalp and face) in conjunction with limbal dermoid of the eye, a giant congenital melanocytic nevus and variable central nervous system abnormalities including seizures, hydrocephalus, neurocutaneous melanosis, arachnoid cysts, and diffuse unilateral hemisphere enlargement.	Is a	True	Aplasia cutis congenita	Inferred relationship	Some
A rare skin disorder with characteristics of the co-occurrence of sebaceous naevi with aplasia cutis congenita located directly adjacent or in close proximity and ocular abnormalities including limbal dermoids and coloboma of the conjunctiva.	Is a	True	Aplasia cutis congenita	Inferred relationship	Some
Aplasia cutis congenita of limb (disorder)	Is a	True	Aplasia cutis congenita	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
59201011	Aplasia cutis congenita	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
59202016	Epitheliogenesis imperfecta	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
59203014	Cutis aplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
767128014	Aplasia cutis congenita (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1228288018	Congenital absence of skin	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1228289014	ACC - Aplasia cutis congenita	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2001361000005118	Aplasia cutis congenita	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)