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 (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

378332019 Congenital ectodermal defect en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

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 Only initial character 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

5082301000241117 déficit ectodermique congénital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5082301000241117 déficit ectodermique congénital 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
Congenital ectodermal defect	Is a	Congenital anomaly of skin (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital ectodermal defect	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital ectodermal defect	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital ectodermal defect	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital ectodermal defect	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital ectodermal defect	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital ectodermal defect	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital ectodermal defect	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital ectodermal defect	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital ectodermal defect	Is a	Congenital malformation	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital ectodermal defect	Is a	Disorder of embryonic structure (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital ectodermal defect	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital ectodermal defect	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital ectodermal defect	Finding site	Ectoderm structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital ectodermal defect	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital ectodermal defect	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Ectodermal dysplasia	Is a	True	Congenital ectodermal defect	Inferred relationship	Existential restriction modifier (core metadata concept)
Neural tube defect	Is a	True	Congenital ectodermal defect	Inferred relationship	Existential restriction modifier (core metadata concept)
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	Existential restriction modifier (core metadata concept)
Neuroectodermal endocrine syndrome	Is a	False	Congenital ectodermal defect	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)	Is a	True	Congenital ectodermal defect	Inferred relationship	Existential restriction modifier (core metadata concept)
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	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	False	Congenital ectodermal defect	Inferred relationship	Existential restriction modifier (core metadata concept)
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	Existential restriction modifier (core metadata concept)
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder)	Is a	True	Congenital ectodermal defect	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets