722003007: Intellectual disability with cataract and kyphosis syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of spine\Curvature of spine\Kyphosis deformity of spine\Congenital kyphosis\Intellectual disability with cataract and kyphosis syndrome
\Deformity\Congenital deformity\Congenital kyphosis\Intellectual disability with cataract and kyphosis syndrome

\Finding of back\Finding of spinal region\Disorder of spinal region\Congenital anomaly of vertebral region of back\Congenital kyphosis\Intellectual disability with cataract and kyphosis syndrome
\Finding of back\Finding of spinal region\Disorder of spinal region\Curvature of spine\Kyphosis deformity of spine\Congenital kyphosis\Intellectual disability with cataract and kyphosis syndrome
\Finding of back\Finding of spinal region\Deformity of spine\Curvature of spine\Kyphosis deformity of spine\Congenital kyphosis\Intellectual disability with cataract and kyphosis syndrome
\Finding of back\Disorder of back\Disorder of spinal region\Congenital anomaly of vertebral region of back\Congenital kyphosis\Intellectual disability with cataract and kyphosis syndrome
\Finding of back\Disorder of back\Disorder of spinal region\Curvature of spine\Kyphosis deformity of spine\Congenital kyphosis\Intellectual disability with cataract and kyphosis syndrome
\Finding of back\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital kyphosis\Intellectual disability with cataract and kyphosis syndrome

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Intellectual disability with cataract and kyphosis syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Cataract finding\Cataract\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Cataract\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome

\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Cataract finding\Cataract\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Cataract\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Intellectual disability with cataract and kyphosis syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Intellectual disability with cataract and kyphosis syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Intellectual disability with cataract and kyphosis syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Intellectual disability with cataract and kyphosis syndrome

\Musculoskeletal finding\Musculoskeletal disorder\...

\Kyphosis deformity of spine\Congenital kyphosis\Intellectual disability with cataract and kyphosis syndrome

\Hereditary disorder of musculoskeletal system\Intellectual disability with cataract and kyphosis syndrome

\Congenital anomaly of musculoskeletal system\Congenital kyphosis\Intellectual disability with cataract and kyphosis syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Intellectual disability with cataract and kyphosis syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Intellectual disability with cataract and kyphosis syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Intellectual disability with cataract and kyphosis syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Intellectual disability with cataract and kyphosis syndrome
\Disease\Degenerative disorder\Degenerative disorder of eye\Cataract\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Intellectual disability with cataract and kyphosis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Intellectual disability with cataract and kyphosis syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Intellectual disability with cataract and kyphosis syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Kyphosis deformity of spine\Congenital kyphosis\Intellectual disability with cataract and kyphosis syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Intellectual disability with cataract and kyphosis syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital kyphosis\Intellectual disability with cataract and kyphosis syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital kyphosis\Intellectual disability with cataract and kyphosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Congenital kyphosis\Intellectual disability with cataract and kyphosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital kyphosis\Intellectual disability with cataract and kyphosis syndrome
\Disease\Disorder of back\Disorder of spinal region\Congenital anomaly of vertebral region of back\Congenital kyphosis\Intellectual disability with cataract and kyphosis syndrome
\Disease\Disorder of back\Disorder of spinal region\Curvature of spine\Kyphosis deformity of spine\Congenital kyphosis\Intellectual disability with cataract and kyphosis syndrome
\Disease\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital kyphosis\Intellectual disability with cataract and kyphosis syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Intellectual disability with cataract and kyphosis syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Intellectual disability with cataract and kyphosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital kyphosis\Intellectual disability with cataract and kyphosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Congenital kyphosis\Intellectual disability with cataract and kyphosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Intellectual disability with cataract and kyphosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital kyphosis\Intellectual disability with cataract and kyphosis syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3330097017 Intellectual disability with cataract and kyphosis syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3330098010 Intellectual disability with cataract and kyphosis syndrome en Synonym Active Case insensitive SNOMED CT core

3330096014 This syndrome has characteristics of severe intellectual deficit, kyphosis with onset in childhood and cataract with onset in late adolescence. The syndrome has been described in three siblings. The two brothers also presented with iris coloboma. Other clinical findings include contractures of large joints, bulbous nose with broad nasal bridge, and thick lips. The disease is linked to the pericentromeric region of chromosome 4. Transmission is autosomal recessive. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Intellectual disability with cataract and kyphosis syndrome	Is a	Congenital anomaly of musculoskeletal system	false	Inferred relationship	Some
Intellectual disability with cataract and kyphosis syndrome	Finding site	Structure of lens of eye	true	Inferred relationship	Some	1
Intellectual disability with cataract and kyphosis syndrome	Finding site	Musculoskeletal structure of spine	true	Inferred relationship	Some	2
Intellectual disability with cataract and kyphosis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Intellectual disability with cataract and kyphosis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Intellectual disability with cataract and kyphosis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Intellectual disability with cataract and kyphosis syndrome	Is a	Congenital anomaly of vertebral region of back	false	Inferred relationship	Some
Intellectual disability with cataract and kyphosis syndrome	Associated morphology	Abnormal curvature	false	Inferred relationship	Some	2
Intellectual disability with cataract and kyphosis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Intellectual disability with cataract and kyphosis syndrome	Associated morphology	Cataract	false	Inferred relationship	Some	1
Intellectual disability with cataract and kyphosis syndrome	Is a	Congenital deformity	false	Inferred relationship	Some
Intellectual disability with cataract and kyphosis syndrome	Associated morphology	Abnormally opaque structure	true	Inferred relationship	Some	1
Intellectual disability with cataract and kyphosis syndrome	Is a	Congenital deformity of spine	false	Inferred relationship	Some
Intellectual disability with cataract and kyphosis syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Intellectual disability with cataract and kyphosis syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	3
Intellectual disability with cataract and kyphosis syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3
Intellectual disability with cataract and kyphosis syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	4
Intellectual disability with cataract and kyphosis syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
Intellectual disability with cataract and kyphosis syndrome	Associated morphology	Anteroposterior abnormal curvature	true	Inferred relationship	Some	2
Intellectual disability with cataract and kyphosis syndrome	Is a	Congenital kyphosis	true	Inferred relationship	Some
Intellectual disability with cataract and kyphosis syndrome	Is a	Congenital cataract	true	Inferred relationship	Some
Intellectual disability with cataract and kyphosis syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Intellectual disability with cataract and kyphosis syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
Intellectual disability with cataract and kyphosis syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Intellectual disability with cataract and kyphosis syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Intellectual disability with cataract and kyphosis syndrome	Associated morphology	Congenital cataract	false	Inferred relationship	Some	3
Intellectual disability with cataract and kyphosis syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Intellectual disability with cataract and kyphosis syndrome	Finding site	Structure of lens of eye	false	Inferred relationship	Some	3
Intellectual disability with cataract and kyphosis syndrome	Associated morphology	Abnormal curvature	false	Inferred relationship	Some	4
Intellectual disability with cataract and kyphosis syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Intellectual disability with cataract and kyphosis syndrome	Finding site	Musculoskeletal structure of spine	false	Inferred relationship	Some	4
Intellectual disability with cataract and kyphosis syndrome	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

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3330097017	Intellectual disability with cataract and kyphosis syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3330098010	Intellectual disability with cataract and kyphosis syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3330096014	This syndrome has characteristics of severe intellectual deficit, kyphosis with onset in childhood and cataract with onset in late adolescence. The syndrome has been described in three siblings. The two brothers also presented with iris coloboma. Other clinical findings include contractures of large joints, bulbous nose with broad nasal bridge, and thick lips. The disease is linked to the pericentromeric region of chromosome 4. Transmission is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core