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763619009: White forelock with malformations syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
3643046015 White forelock with malformations syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3643047012 White forelock with malformations syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3643048019 White forelock with malformations en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3643049010 A multiple congenital anomalies syndrome with characteristics of poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins) and skeletal (clinodactyly, syndactyly of the fingers and second and third toes) systems. There have been no further descriptions in the literature since 1980. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
2193661000172119 "syndrome de mèches blanches, anomalies multiples" fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian French language reference set (foundation metadata concept): Preferred (foundation metadata concept)
2193651000172116 syndroom van witte voorhoofdslok met misvormingen nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Preferred (foundation metadata concept)

0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
White forelock with malformations syndrome Is a Congenital anomaly of skeletal bone true Inferred relationship Some
White forelock with malformations syndrome Is a Congenital anomaly of cardiovascular system true Inferred relationship Some
White forelock with malformations syndrome Is a Poliosis true Inferred relationship Some
White forelock with malformations syndrome Is a Congenital anomaly of eye true Inferred relationship Some
White forelock with malformations syndrome Is a Congenital anomaly of hair true Inferred relationship Some
White forelock with malformations syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
White forelock with malformations syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
White forelock with malformations syndrome Is a Cardiovascular system hereditary disorder true Inferred relationship Some
White forelock with malformations syndrome Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
White forelock with malformations syndrome Is a Hereditary disorder of the integument true Inferred relationship Some
White forelock with malformations syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
White forelock with malformations syndrome Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
White forelock with malformations syndrome Associated morphology Developmental anomaly false Inferred relationship Some 5
White forelock with malformations syndrome Occurrence Congenital true Inferred relationship Some 5
White forelock with malformations syndrome Finding site Structure of cardiovascular system (body structure) true Inferred relationship Some 5
White forelock with malformations syndrome Occurrence Congenital true Inferred relationship Some 2
White forelock with malformations syndrome Occurrence Congenital true Inferred relationship Some 1
White forelock with malformations syndrome Occurrence Congenital true Inferred relationship Some 4
White forelock with malformations syndrome Associated morphology Developmental anomaly false Inferred relationship Some 3
White forelock with malformations syndrome Associated morphology Developmental anomaly false Inferred relationship Some 1
White forelock with malformations syndrome Occurrence Congenital true Inferred relationship Some 3
White forelock with malformations syndrome Associated morphology Developmental anomaly false Inferred relationship Some 4
White forelock with malformations syndrome Associated morphology Developmental anomaly false Inferred relationship Some 2
White forelock with malformations syndrome Finding site Hair structure (body structure) true Inferred relationship Some 1
White forelock with malformations syndrome Finding site Bone structure true Inferred relationship Some 2
White forelock with malformations syndrome Finding site Face structure true Inferred relationship Some 3
White forelock with malformations syndrome Finding site Eye structure true Inferred relationship Some 4
White forelock with malformations syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
White forelock with malformations syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 5
White forelock with malformations syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
White forelock with malformations syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
White forelock with malformations syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
White forelock with malformations syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
White forelock with malformations syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
White forelock with malformations syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 4
White forelock with malformations syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
White forelock with malformations syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
White forelock with malformations syndrome Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

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