254154003: Congenital ectodermal defect (disorder)

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

\Disorder of embryonic structure (disorder)\Congenital ectodermal defect

\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital ectodermal defect

\Developmental disorder\Congenital malformation\Congenital ectodermal defect

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2015. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

378332019 Congenital ectodermal defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

645006015 Congenital ectodermal defect (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1453271000005118 Kongenit ektodermal defekt da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital ectodermal defect	Is a	Congenital anomaly of skin	false	Inferred relationship	Some
Congenital ectodermal defect	Finding site	Skin structure	false	Inferred relationship	Some	1
Congenital ectodermal defect	Occurrence	Congenital	false	Inferred relationship	Some
Congenital ectodermal defect	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital ectodermal defect	Finding site	Skin structure	false	Inferred relationship	Some	1
Congenital ectodermal defect	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital ectodermal defect	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital ectodermal defect	Associated morphology	dysgenese	false	Inferred relationship	Some	2
Congenital ectodermal defect	Finding site	Skin structure	false	Inferred relationship	Some	2
Congenital ectodermal defect	Is a	Congenital malformation	true	Inferred relationship	Some
Congenital ectodermal defect	Is a	Disorder of embryonic structure (disorder)	true	Inferred relationship	Some
Congenital ectodermal defect	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital ectodermal defect	Associated morphology	dysgenese	false	Inferred relationship	Some	1
Congenital ectodermal defect	Finding site	Ectoderm structure	true	Inferred relationship	Some	1
Congenital ectodermal defect	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital ectodermal defect	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Ectodermal dysplasia	Is a	True	Congenital ectodermal defect	Inferred relationship	Some
Neural tube defect	Is a	True	Congenital ectodermal defect	Inferred relationship	Some
A rare genetic disease characterized by global developmental delay with language and cognition deficiencies, behavioral problems, osteopenia, joint laxity, skin defects consisting of hyperkeratosis and sweat gland and melanocyte abnormalities with hypopigmented areas, and abnormal hair structure. Mild facial dysmorphism (prominent forehead, thick eyebrows, epicanthal folds, broad nasal bridge, long philtrum, and micrognathia), abnormalities of the teeth, and skeletal and cardiac anomalies have also been described.	Is a	True	Congenital ectodermal defect	Inferred relationship	Some
Neuroectodermal endocrine syndrome	Is a	False	Congenital ectodermal defect	Inferred relationship	Some
Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum.	Is a	True	Congenital ectodermal defect	Inferred relationship	Some
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.	Is a	True	Congenital ectodermal defect	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	False	Congenital ectodermal defect	Inferred relationship	Some
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.	Is a	False	Congenital ectodermal defect	Inferred relationship	Some
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (including an abnormal skull shape, hypertelorism, downslanting palpebral fissures, epicanthal folds, low-set ears, depressed nasal bridge, micrognathia), short stature, ectodermal anomalies (such as sparse eyebrows, eyelashes, and scalp hair, hypoplastic toenails), developmental delay, and intellectual disability. Additional features may include cerebral/cerebellar malformations and mild renal involvement.	Is a	True	Congenital ectodermal defect	Inferred relationship	Some

This concept is not in any reference sets