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725906006: Intellectual disability Buenos Aires type (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3446301011 Intellectual disability Buenos Aires type (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core
3446302016 Intellectual disability Buenos Aires type en Synonym Active Initial character case insensitive SNOMED CT core
3446303014 Mutchinick syndrome en Synonym Active Case sensitive SNOMED CT core
3446304015 A rare intellectual disability syndrome with characteristics of growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Intellectual disability Buenos Aires type Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Intellectual disability Buenos Aires type Pathological process Pathological developmental process true Inferred relationship Some 1
Intellectual disability Buenos Aires type Is a Developmental hereditary disorder true Inferred relationship Some
Intellectual disability Buenos Aires type Interprets Intellectual ability true Inferred relationship Some 2
Intellectual disability Buenos Aires type Has interpretation Impaired true Inferred relationship Some 2
Intellectual disability Buenos Aires type Interprets Adaptation behaviour true Inferred relationship Some 3
Intellectual disability Buenos Aires type Has interpretation Impaired true Inferred relationship Some 3
Intellectual disability Buenos Aires type Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Intellectual disability Buenos Aires type Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Intellectual disability Buenos Aires type Is a Intellectual disability false Inferred relationship Some
Intellectual disability Buenos Aires type Associated morphology Developmental abnormality false Inferred relationship Some 1
Intellectual disability Buenos Aires type Occurrence Congenital true Inferred relationship Some 1
Intellectual disability Buenos Aires type Finding site Face structure true Inferred relationship Some 1
Intellectual disability Buenos Aires type Is a Intellectual disability true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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