722379001: Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin finding\...

\Hair finding\Disorder of hair\...

\Disorder of hair growth\Hypertrichosis\Congenital hypertrichosis\Congenital cataract with hypertrichosis and intellectual disability syndrome

\Congenital anomaly of hair\Congenital hypertrichosis\Congenital cataract with hypertrichosis and intellectual disability syndrome

\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\Congenital hypertrichosis\Congenital cataract with hypertrichosis and intellectual disability syndrome
\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypertrichosis\Congenital cataract with hypertrichosis and intellectual disability syndrome
\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis\Congenital cataract with hypertrichosis and intellectual disability syndrome

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

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Disorder of hair growth\Hypertrichosis\Congenital hypertrichosis\Congenital cataract with hypertrichosis and intellectual disability syndrome
\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital hypertrichosis\Congenital cataract with hypertrichosis and intellectual disability syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\Congenital hypertrichosis\Congenital cataract with hypertrichosis and intellectual disability syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypertrichosis\Congenital cataract with hypertrichosis and intellectual disability syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis\Congenital cataract with hypertrichosis and intellectual disability syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\Congenital hypertrichosis\Congenital cataract with hypertrichosis and intellectual disability syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypertrichosis\Congenital cataract with hypertrichosis and intellectual disability syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis\Congenital cataract with hypertrichosis and intellectual disability 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\Congenital cataract with hypertrichosis and intellectual disability syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract with hypertrichosis and intellectual disability 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\Congenital cataract with hypertrichosis and intellectual disability 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\Congenital cataract with hypertrichosis and intellectual disability syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract with hypertrichosis and intellectual disability 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\Congenital cataract with hypertrichosis and intellectual disability syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Cataract finding\Cataract\Congenital cataract\Congenital cataract with hypertrichosis and intellectual disability syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Cataract\Congenital cataract\Congenital cataract with hypertrichosis and intellectual disability syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract with hypertrichosis and intellectual disability 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\Congenital cataract with hypertrichosis and intellectual disability syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract with hypertrichosis and intellectual disability 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\Congenital cataract with hypertrichosis and intellectual disability syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Congenital cataract with hypertrichosis and intellectual disability syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract with hypertrichosis and intellectual disability 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\Congenital cataract with hypertrichosis and intellectual disability 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\Congenital cataract with hypertrichosis and intellectual disability syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract with hypertrichosis and intellectual disability 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\Congenital cataract with hypertrichosis and intellectual disability syndrome

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

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

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

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Congenital cataract with hypertrichosis and intellectual disability syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\Congenital hypertrichosis\Congenital cataract with hypertrichosis and intellectual disability syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypertrichosis\Congenital cataract with hypertrichosis and intellectual disability syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis\Congenital cataract with hypertrichosis and intellectual disability syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis\Congenital cataract with hypertrichosis and intellectual disability syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair growth\Hypertrichosis\Congenital hypertrichosis\Congenital cataract with hypertrichosis and intellectual disability syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital hypertrichosis\Congenital cataract with hypertrichosis and intellectual disability syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\Congenital hypertrichosis\Congenital cataract with hypertrichosis and intellectual disability syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypertrichosis\Congenital cataract with hypertrichosis and intellectual disability syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis\Congenital cataract with hypertrichosis and intellectual disability syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Congenital cataract with hypertrichosis and intellectual disability syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Congenital cataract with hypertrichosis and intellectual disability syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital cataract with hypertrichosis and intellectual disability syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital cataract with hypertrichosis and intellectual disability syndrome
\Disease\Degenerative disorder\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract with hypertrichosis and intellectual disability syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Congenital cataract with hypertrichosis and intellectual disability syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Congenital cataract with hypertrichosis and intellectual disability syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Congenital cataract with hypertrichosis and intellectual disability syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\Congenital hypertrichosis\Congenital cataract with hypertrichosis and intellectual disability syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypertrichosis\Congenital cataract with hypertrichosis and intellectual disability syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis\Congenital cataract with hypertrichosis and intellectual disability syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis\Congenital cataract with hypertrichosis and intellectual disability 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\Congenital cataract with hypertrichosis and intellectual disability 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\Congenital cataract with hypertrichosis and intellectual disability 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\Congenital cataract with hypertrichosis and intellectual disability 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\Congenital cataract with hypertrichosis and intellectual disability 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\Congenital cataract with hypertrichosis and intellectual disability 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\Congenital cataract with hypertrichosis and intellectual disability syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Congenital cataract with hypertrichosis and intellectual disability 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\Congenital cataract with hypertrichosis and intellectual disability syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Congenital cataract with hypertrichosis and intellectual disability syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract with hypertrichosis and intellectual disability 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\Congenital cataract with hypertrichosis and intellectual disability 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\Congenital cataract with hypertrichosis and intellectual disability syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract with hypertrichosis and intellectual disability 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\Congenital cataract with hypertrichosis and intellectual disability 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\Congenital cataract with hypertrichosis and intellectual disability syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Congenital cataract with hypertrichosis and intellectual disability 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\Congenital cataract with hypertrichosis and intellectual disability 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\Congenital cataract with hypertrichosis and intellectual disability syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis\Congenital cataract with hypertrichosis and intellectual disability syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\Congenital hypertrichosis\Congenital cataract with hypertrichosis and intellectual disability syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypertrichosis\Congenital cataract with hypertrichosis and intellectual disability syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis\Congenital cataract with hypertrichosis and intellectual disability syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Congenital cataract with hypertrichosis and intellectual disability syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital cataract with hypertrichosis and intellectual disability syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Congenital cataract with hypertrichosis and intellectual disability 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\Congenital cataract with hypertrichosis and intellectual disability 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\Congenital cataract with hypertrichosis and intellectual disability syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis\Congenital cataract with hypertrichosis and intellectual disability syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3331755010 Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3331756011 Congenital cataract with hypertrichosis and intellectual disability syndrome en Synonym Active Case insensitive SNOMED CT core

3331757019 CAHMR syndrome en Synonym Active Case sensitive SNOMED CT core

3331758012 CAHMR (cataract, hypertrichosis, mental retardation) syndrome en Synonym Active Case sensitive SNOMED CT core

3331759016 This syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian siblings born to consanguineous parents. It is transmitted as an autosomal recessive trait. en Definition Active Case sensitive SNOMED CT core

3331760014 This syndrome is characterised by congenital cataract, generalised hypertrichosis and intellectual deficit. It has been described in two Egyptian siblings born to consanguineous parents. It is transmitted as an autosomal recessive trait. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital cataract with hypertrichosis and intellectual disability syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Congenital cataract with hypertrichosis and intellectual disability syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Congenital cataract with hypertrichosis and intellectual disability syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Congenital cataract with hypertrichosis and intellectual disability syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital cataract with hypertrichosis and intellectual disability syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	1
Congenital cataract with hypertrichosis and intellectual disability syndrome	Finding site	Structure of lens of eye	true	Inferred relationship	Some	2
Congenital cataract with hypertrichosis and intellectual disability syndrome	Finding site	Hair structure	true	Inferred relationship	Some	1
Congenital cataract with hypertrichosis and intellectual disability syndrome	Associated morphology	Cataract	false	Inferred relationship	Some	2
Congenital cataract with hypertrichosis and intellectual disability syndrome	Associated morphology	Growth alteration	false	Inferred relationship	Some	3
Congenital cataract with hypertrichosis and intellectual disability syndrome	Associated morphology	Abnormally opaque structure	true	Inferred relationship	Some	2
Congenital cataract with hypertrichosis and intellectual disability syndrome	Associated morphology	Growth alteration	true	Inferred relationship	Some	1
Congenital cataract with hypertrichosis and intellectual disability syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Congenital cataract with hypertrichosis and intellectual disability syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	3
Congenital cataract with hypertrichosis and intellectual disability syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3
Congenital cataract with hypertrichosis and intellectual disability syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	4
Congenital cataract with hypertrichosis and intellectual disability syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
Congenital cataract with hypertrichosis and intellectual disability syndrome	Is a	Congenital hypertrichosis	true	Inferred relationship	Some
Congenital cataract with hypertrichosis and intellectual disability syndrome	Is a	Congenital cataract	true	Inferred relationship	Some
Congenital cataract with hypertrichosis and intellectual disability syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Congenital cataract with hypertrichosis and intellectual disability syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Congenital cataract with hypertrichosis and intellectual disability syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
Congenital cataract with hypertrichosis and intellectual disability syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Congenital cataract with hypertrichosis and intellectual disability syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Congenital cataract with hypertrichosis and intellectual disability syndrome	Finding site	Skin structure	false	Inferred relationship	Some
Congenital cataract with hypertrichosis and intellectual disability syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Congenital cataract with hypertrichosis and intellectual disability syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Congenital cataract with hypertrichosis and intellectual disability syndrome	Finding site	Hair structure	false	Inferred relationship	Some	3
Congenital cataract with hypertrichosis and intellectual disability syndrome	Associated morphology	Congenital cataract	false	Inferred relationship	Some	4
Congenital cataract with hypertrichosis and intellectual disability syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Congenital cataract with hypertrichosis and intellectual disability syndrome	Finding site	Structure of lens of eye	false	Inferred relationship	Some	4
Congenital cataract with hypertrichosis and intellectual disability 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

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3331755010	Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3331756011	Congenital cataract with hypertrichosis and intellectual disability syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3331757019	CAHMR syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3331758012	CAHMR (cataract, hypertrichosis, mental retardation) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3331759016	This syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian siblings born to consanguineous parents. It is transmitted as an autosomal recessive trait.	en	Definition	Active	Case sensitive	SNOMED CT core
3331760014	This syndrome is characterised by congenital cataract, generalised hypertrichosis and intellectual deficit. It has been described in two Egyptian siblings born to consanguineous parents. It is transmitted as an autosomal recessive trait.	en	Definition	Active	Case sensitive	SNOMED CT core