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724284005: Hypertelorism Teebi type (disorder)


Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3433657016 Hypertelorism Teebi type (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core
3433658014 Hypertelorism Teebi type en Synonym Active Initial character case insensitive SNOMED CT core
3433659018 Brachycephalofrontonasal dysplasia en Synonym Active Case insensitive SNOMED CT core
3433660011 Craniofrontonasal dysplasia Teebi type en Synonym Active Initial character case insensitive SNOMED CT core
3433661010 Teebi hypertelorism syndrome en Synonym Active Case sensitive SNOMED CT core
3433662015 Teebi syndrome en Synonym Active Case sensitive SNOMED CT core
3433663013 A rare genetic disease with characteristics of hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia, such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin. Limb features include fifth-finger clinodactyly, pes adductus, mild interdigital webbing. Urogenital features include bilateral cryptorchidism and shawl scrotum in males. Other manifestations include umbilical hernia/omphalocele and cardiac defects. Psychomotor development is normal. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hypertelorism Teebi type Occurrence Congenital true Inferred relationship Some 1
Hypertelorism Teebi type Pathological process Pathological developmental process true Inferred relationship Some 2
Hypertelorism Teebi type Occurrence Congenital true Inferred relationship Some 2
Hypertelorism Teebi type Pathological process Pathological developmental process true Inferred relationship Some 1
Hypertelorism Teebi type Associated morphology Congenital dysplasia false Inferred relationship Some 2
Hypertelorism Teebi type Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Hypertelorism Teebi type Finding site Face structure true Inferred relationship Some 1
Hypertelorism Teebi type Finding site Sphenoid bone structure true Inferred relationship Some 2
Hypertelorism Teebi type Associated morphology Dysplasia true Inferred relationship Some 2
Hypertelorism Teebi type Is a Developmental hereditary disorder true Inferred relationship Some
Hypertelorism Teebi type Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Hypertelorism Teebi type Is a Frontonasal dysplasia sequence true Inferred relationship Some
Hypertelorism Teebi type Is a Sphenoidal dysostosis true Inferred relationship Some
Hypertelorism Teebi type Is a Inherited disorder of connective tissue false Inferred relationship Some
Hypertelorism Teebi type Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Hypertelorism Teebi type Occurrence Congenital false Inferred relationship Some 3
Hypertelorism Teebi type Occurrence Congenital false Inferred relationship Some 4
Hypertelorism Teebi type Associated morphology Congenital dysplasia false Inferred relationship Some 3
Hypertelorism Teebi type Finding site Sphenoid bone structure false Inferred relationship Some 3
Hypertelorism Teebi type Associated morphology Developmental abnormality false Inferred relationship Some 4
Hypertelorism Teebi type Finding site Face structure false 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

Problem/Diagnosis reference set

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