FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.12  |  FHIR Version n/a  User: [n/a]

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
4225651000052111 Teebi-Shaltouts syndrom sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Teebi Shaltout syndrome Finding site Bone structure of face true Inferred relationship Some 2
Teebi Shaltout syndrome Is a Congenital anomaly of face bones true Inferred relationship Some
Teebi Shaltout syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Teebi Shaltout syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Teebi Shaltout syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Teebi Shaltout syndrome Is a Dysostosis true Inferred relationship Some
Teebi Shaltout syndrome Occurrence Congenital true Inferred relationship Some 2
Teebi Shaltout syndrome Associated morphology kongenital dysplasi false Inferred relationship Some 2
Teebi Shaltout syndrome Is a Hereditary disorder of the integument true Inferred relationship Some
Teebi Shaltout syndrome Occurrence Congenital true Inferred relationship Some 1
Teebi Shaltout syndrome Is a Lesion of face (finding) true Inferred relationship Some
Teebi Shaltout syndrome Is a Ectodermal dysplasia with hair-tooth defects true Inferred relationship Some
Teebi Shaltout syndrome Occurrence Congenital true Inferred relationship Some 3
Teebi Shaltout syndrome Associated morphology kongenital dysplasi false Inferred relationship Some 3
Teebi Shaltout syndrome Finding site Ectoderm structure true Inferred relationship Some 3
Teebi Shaltout syndrome Finding site Skin structure 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 Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Teebi Shaltout syndrome Associated morphology Dysplasia true Inferred relationship Some 2
Teebi Shaltout syndrome Associated morphology Dysplasia true Inferred relationship Some 3
Teebi Shaltout syndrome Is a Digestive system hereditary disorder (disorder) false Inferred relationship Some
Teebi Shaltout syndrome Finding site Tooth structure true Inferred relationship Some 4
Teebi Shaltout syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Teebi Shaltout syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 4
Teebi Shaltout syndrome Finding site Hair structure (body structure) true Inferred relationship Some 1
Teebi Shaltout syndrome Occurrence Congenital true Inferred relationship Some 4
Teebi Shaltout syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Teebi Shaltout syndrome Is a Hereditary disorder of tooth true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

Back to Start