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721888002: Scalp, ear, nipple syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3319049016 Scalp, ear, nipple syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3326468014 Scalp, ear, nipple syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3326469018 Finlay Marks syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402736014 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402737017 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Scalp, ear, nipple syndrome (disorder) Is a Ectodermal dysplasia true Inferred relationship Some
Scalp, ear, nipple syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Scalp, ear, nipple syndrome (disorder) Is a Disorder of pinna true Inferred relationship Some
Scalp, ear, nipple syndrome (disorder) Is a Congenital absence of nipple true Inferred relationship Some
Scalp, ear, nipple syndrome (disorder) Is a Disorder of scalp true Inferred relationship Some
Scalp, ear, nipple syndrome (disorder) Is a Aplasia of skin true Inferred relationship Some
Scalp, ear, nipple syndrome (disorder) Is a Congenital abnormality of external ear true Inferred relationship Some
Scalp, ear, nipple syndrome (disorder) Is a Auditory system hereditary disorder true Inferred relationship Some
Scalp, ear, nipple syndrome (disorder) Is a Hereditary disorder of the integument true Inferred relationship Some
Scalp, ear, nipple syndrome (disorder) Is a Disorder of skin of head (disorder) true Inferred relationship Some
Scalp, ear, nipple syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Scalp, ear, nipple syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Scalp, ear, nipple syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Scalp, ear, nipple syndrome (disorder) Occurrence Congenital false Inferred relationship Some 7
Scalp, ear, nipple syndrome (disorder) Associated morphology Congenital hypoplasia false Inferred relationship Some 4
Scalp, ear, nipple syndrome (disorder) Finding site Pinna structure true Inferred relationship Some 4
Scalp, ear, nipple syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 7
Scalp, ear, nipple syndrome (disorder) Finding site Ectoderm structure false Inferred relationship Some 7
Scalp, ear, nipple syndrome (disorder) Associated morphology Aplasia false Inferred relationship Some 6
Scalp, ear, nipple syndrome (disorder) Finding site Skin structure of scalp (body structure) false Inferred relationship Some 6
Scalp, ear, nipple syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 5
Scalp, ear, nipple syndrome (disorder) Finding site Nipple structure false Inferred relationship Some 5
Scalp, ear, nipple syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Scalp, ear, nipple syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Scalp, ear, nipple syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Scalp, ear, nipple syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Scalp, ear, nipple syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Scalp, ear, nipple syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Scalp, ear, nipple syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Scalp, ear, nipple syndrome (disorder) Finding site Nipple structure true Inferred relationship Some 1
Scalp, ear, nipple syndrome (disorder) Finding site Ectoderm structure true Inferred relationship Some 3
Scalp, ear, nipple syndrome (disorder) Finding site Skin structure of scalp (body structure) true Inferred relationship Some 2
Scalp, ear, nipple syndrome (disorder) Associated morphology Aplasia true Inferred relationship Some 2
Scalp, ear, nipple syndrome (disorder) Is a Genodermatosis false Inferred relationship Some
Scalp, ear, nipple syndrome (disorder) Is a Congenital ectodermal defect false Inferred relationship Some
Scalp, ear, nipple syndrome (disorder) Is a Congenital abnormality of nipple false Inferred relationship Some
Scalp, ear, nipple syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 3
Scalp, ear, nipple syndrome (disorder) Associated morphology Hypoplasia true Inferred relationship Some 4
Scalp, ear, nipple syndrome (disorder) Associated morphology Absence (morphologic abnormality) true Inferred relationship Some 1
Scalp, ear, nipple syndrome (disorder) Is a Congenital absence of breast false Inferred relationship Some
Scalp, ear, nipple syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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