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771265006: Teebi Shaltout syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3705347019 Teebi Shaltout syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3705348012 Teebi Shaltout syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3705349016 A rare genetic development defect during embryogenesis malformation syndrome with the association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features. 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
Teebi Shaltout syndrome morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 3
Teebi Shaltout syndrome localisation d'une constatation (attribut) Ectoderm structure true Inferred relationship Some 3
Teebi Shaltout syndrome localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 1
Teebi Shaltout syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Teebi Shaltout syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Teebi Shaltout syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Teebi Shaltout syndrome morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Teebi Shaltout syndrome morphologie associée (attribut) dysplasie true Inferred relationship Some 2
Teebi Shaltout syndrome morphologie associée (attribut) dysplasie true Inferred relationship Some 3
Teebi Shaltout syndrome est un(e) (attribut) Digestive system hereditary disorder false Inferred relationship Some
Teebi Shaltout syndrome localisation d'une constatation (attribut) dent (structure corporelle) true Inferred relationship Some 4
Teebi Shaltout syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Teebi Shaltout syndrome morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 4
Teebi Shaltout syndrome localisation d'une constatation (attribut) Hair structure (body structure) true Inferred relationship Some 1
Teebi Shaltout syndrome survenue (attribut) congénital true Inferred relationship Some 4
Teebi Shaltout syndrome est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Teebi Shaltout syndrome est un(e) (attribut) Hereditary disorder of tooth true Inferred relationship Some
Teebi Shaltout syndrome localisation d'une constatation (attribut) os de la face (structure corporelle) true Inferred relationship Some 2
Teebi Shaltout syndrome est un(e) (attribut) Congenital anomaly of face bones true Inferred relationship Some
Teebi Shaltout syndrome est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Teebi Shaltout syndrome est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Teebi Shaltout syndrome est un(e) (attribut) Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Teebi Shaltout syndrome est un(e) (attribut) Dysostosis true Inferred relationship Some
Teebi Shaltout syndrome survenue (attribut) congénital true Inferred relationship Some 2
Teebi Shaltout syndrome morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 2
Teebi Shaltout syndrome est un(e) (attribut) Hereditary disorder of the integument true Inferred relationship Some
Teebi Shaltout syndrome survenue (attribut) congénital true Inferred relationship Some 1
Teebi Shaltout syndrome est un(e) (attribut) Lesion of face (finding) true Inferred relationship Some
Teebi Shaltout syndrome est un(e) (attribut) Ectodermal dysplasia with hair-tooth defects true Inferred relationship Some
Teebi Shaltout syndrome survenue (attribut) congénital true Inferred relationship Some 3

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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