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35484002: Aplasia cutis congenita (disorder)

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

Descriptions:

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
869321000172112 aplasia cutis congenita fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3447531001000118 Aplasia cutis congenita de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

20 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Aplasia cutis congenita (disorder) Is a Skin lesion false Inferred relationship Some
Aplasia cutis congenita (disorder) Is a Aplasia of skin (disorder) true Inferred relationship Some
Aplasia cutis congenita (disorder) Is a Nevi, hamartomas and developmental anomalies false Inferred relationship Some
Aplasia cutis congenita (disorder) Associated morphology Congenital absence false Inferred relationship Some 1
Aplasia cutis congenita (disorder) Finding site Skin structure false Inferred relationship Some 1
Aplasia cutis congenita (disorder) Finding site Structure of skin region false Inferred relationship Some 1
Aplasia cutis congenita (disorder) Occurrence Congenital false Inferred relationship Some
Aplasia cutis congenita (disorder) Is a Congenital malformation false Inferred relationship Some
Aplasia cutis congenita (disorder) Is a Site-specific disorder of skin false Inferred relationship Some
Aplasia cutis congenita (disorder) Is a Congenital anomaly of skin true Inferred relationship Some
Aplasia cutis congenita (disorder) Finding site Skin structure false Inferred relationship Some 1
Aplasia cutis congenita (disorder) Finding site Skin structure false Inferred relationship Some 1
Aplasia cutis congenita (disorder) Associated morphology Congenital absence false Inferred relationship Some 1
Aplasia cutis congenita (disorder) Occurrence Congenital false Inferred relationship Some 2
Aplasia cutis congenita (disorder) Finding site Skin structure false Inferred relationship Some 2
Aplasia cutis congenita (disorder) Is a Congenital absence false Inferred relationship Some
Aplasia cutis congenita (disorder) Associated morphology Congenital partial absence false Inferred relationship Some 2
Aplasia cutis congenita (disorder) Occurrence Congenital true Inferred relationship Some 1
Aplasia cutis congenita (disorder) Associated morphology Congenital absence false Inferred relationship Some 1
Aplasia cutis congenita (disorder) Finding site Skin part true Inferred relationship Some 1
Aplasia cutis congenita (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Aplasia cutis congenita (disorder) 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 (disorder) Inferred relationship Some
Congenital absence of skin on scalp with epidermal naevi Is a True Aplasia cutis congenita (disorder) Inferred relationship Some
Adams-Oliver syndrome Is a True Aplasia cutis congenita (disorder) Inferred relationship Some
Aplasia cutis congenita due to underlying malformation (Type 4) (disorder) Is a True Aplasia cutis congenita (disorder) Inferred relationship Some
Aplasia cutis congenita associated with fetus papyraceus (Type 5) (disorder) Is a True Aplasia cutis congenita (disorder) Inferred relationship Some
Aplasia cutis congenita in association with epidermolysis bullosa (Type 6) (disorder) Is a True Aplasia cutis congenita (disorder) Inferred relationship Some
Aplasia cutis congenita due to teratogenic drug (Type 7) (disorder) Is a True Aplasia cutis congenita (disorder) Inferred relationship Some
Aplasia cutis congenita following intra-uterine infection (Type 8) (disorder) Is a True Aplasia cutis congenita (disorder) Inferred relationship Some
Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder) Is a True Aplasia cutis congenita (disorder) Inferred relationship Some
Aplasia cutis in Trisomy 13 syndrome (disorder) Is a True Aplasia cutis congenita (disorder) Inferred relationship Some
Aplasia cutis in Chromosome 4 short-arm deletion syndrome (Wolf-Hirschhorn) (disorder) Is a True Aplasia cutis congenita (disorder) Inferred relationship Some
Aplasia cutis in Johanson-Blizzard syndrome (disorder) Is a True Aplasia cutis congenita (disorder) 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 (disorder) 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 (disorder) Inferred relationship Some
A rare ectodermal dysplasia characterized by the association of epibulbar dermoids and aplasia cutis congenital. Is a True Aplasia cutis congenita (disorder) Inferred relationship Some
Autosomal recessive aplasia cutis congenita of limb (disorder) Is a False Aplasia cutis congenita (disorder) Inferred relationship Some
SCALP syndrome is 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 (disorder) Inferred relationship Some
A rare skin disorder characterized by the co-occurrence of sebaceous nevi 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 (disorder) Inferred relationship Some
Aplasia cutis congenita of limb (disorder) Is a True Aplasia cutis congenita (disorder) Inferred relationship Some

This concept is not in any reference sets

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