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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
1013931000241119 syndrome de mèches blanches et anomalies multiples fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3643046015 White forelock with malformations syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3643047012 White forelock with malformations syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3643048019 White forelock with malformations en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
syndrome de mèches blanches et anomalies multiples morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
syndrome de mèches blanches et anomalies multiples morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 5
syndrome de mèches blanches et anomalies multiples morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
syndrome de mèches blanches et anomalies multiples Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
syndrome de mèches blanches et anomalies multiples Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
syndrome de mèches blanches et anomalies multiples Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
syndrome de mèches blanches et anomalies multiples morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 3
syndrome de mèches blanches et anomalies multiples morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 4
syndrome de mèches blanches et anomalies multiples Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
syndrome de mèches blanches et anomalies multiples Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
syndrome de mèches blanches et anomalies multiples est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
syndrome de mèches blanches et anomalies multiples est un(e) (attribut) Congenital anomaly of skeletal bone true Inferred relationship Some
syndrome de mèches blanches et anomalies multiples est un(e) (attribut) Congenital anomaly of cardiovascular system true Inferred relationship Some
syndrome de mèches blanches et anomalies multiples est un(e) (attribut) Poliosis true Inferred relationship Some
syndrome de mèches blanches et anomalies multiples est un(e) (attribut) Congenital anomaly of eye true Inferred relationship Some
syndrome de mèches blanches et anomalies multiples est un(e) (attribut) Congenital anomaly of hair true Inferred relationship Some
syndrome de mèches blanches et anomalies multiples est un(e) (attribut) Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
syndrome de mèches blanches et anomalies multiples est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
syndrome de mèches blanches et anomalies multiples est un(e) (attribut) Cardiovascular system hereditary disorder true Inferred relationship Some
syndrome de mèches blanches et anomalies multiples est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
syndrome de mèches blanches et anomalies multiples est un(e) (attribut) Hereditary disorder of the integument true Inferred relationship Some
syndrome de mèches blanches et anomalies multiples est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
syndrome de mèches blanches et anomalies multiples est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
syndrome de mèches blanches et anomalies multiples morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 5
syndrome de mèches blanches et anomalies multiples survenue (attribut) congénital true Inferred relationship Some 5
syndrome de mèches blanches et anomalies multiples localisation d'une constatation (attribut) Structure of cardiovascular system (body structure) true Inferred relationship Some 5
syndrome de mèches blanches et anomalies multiples survenue (attribut) congénital true Inferred relationship Some 2
syndrome de mèches blanches et anomalies multiples survenue (attribut) congénital true Inferred relationship Some 1
syndrome de mèches blanches et anomalies multiples survenue (attribut) congénital true Inferred relationship Some 4
syndrome de mèches blanches et anomalies multiples morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 3
syndrome de mèches blanches et anomalies multiples morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 1
syndrome de mèches blanches et anomalies multiples survenue (attribut) congénital true Inferred relationship Some 3
syndrome de mèches blanches et anomalies multiples morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 4
syndrome de mèches blanches et anomalies multiples morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 2
syndrome de mèches blanches et anomalies multiples localisation d'une constatation (attribut) Hair structure (body structure) true Inferred relationship Some 1
syndrome de mèches blanches et anomalies multiples localisation d'une constatation (attribut) structure osseuse true Inferred relationship Some 2
syndrome de mèches blanches et anomalies multiples localisation d'une constatation (attribut) face true Inferred relationship Some 3
syndrome de mèches blanches et anomalies multiples localisation d'une constatation (attribut) Structure of eye proper (body structure) true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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