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763619009: White forelock with malformations syndrome (disorder)


Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3643046015 White forelock with malformations syndrome en Synonym Active Case insensitive SNOMED CT core
3643047012 White forelock with malformations syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3643048019 White forelock with malformations en Synonym Active Case insensitive SNOMED CT core
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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
White forelock with malformations syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
White forelock with malformations syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 5
White forelock with malformations syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
White forelock with malformations syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
White forelock with malformations syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
White forelock with malformations syndrome Pathological process Pathological developmental process true Inferred relationship Some 4
White forelock with malformations syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 3
White forelock with malformations syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 4
White forelock with malformations syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
White forelock with malformations syndrome Pathological process Pathological developmental process true Inferred relationship Some 5
White forelock with malformations syndrome Is a Developmental hereditary disorder true Inferred relationship Some
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 Inherited disorder of connective tissue 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 true Inferred relationship Some
White forelock with malformations syndrome Associated morphology Developmental abnormality 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 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 abnormality false Inferred relationship Some 3
White forelock with malformations syndrome Associated morphology Developmental abnormality 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 abnormality false Inferred relationship Some 4
White forelock with malformations syndrome Associated morphology Developmental abnormality false Inferred relationship Some 2
White forelock with malformations syndrome Finding site Hair 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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

Strength reference set

Description inactivation indicator reference set

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