778009001: Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of eyelid\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Deformity\Congenital deformity\Congenital deformity of face\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type

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

\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Deformity of eyelid\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Finding of head region\Finding of face\Eyelid finding\Palpebral fissure finding\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Deformity of eyelid\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Finding of head region\Finding of face\Disorder of face\Lesion of face\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Congenital deformity of face\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Finding of head region\Finding of face\Disorder of face\Disorder of eyelid\Deformity of eyelid\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Finding of head region\Finding of face\Disorder of face\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Finding of head region\Finding of face\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type

\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Deformity of eyelid\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disorder of head\Disorder of face\Lesion of face\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital deformity of face\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disorder of head\Disorder of face\Disorder of eyelid\Deformity of eyelid\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disorder of head\Disorder of face\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disorder of head\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital deformity of face\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disorder of head\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type

\Eye / vision finding\Eyelid finding\Palpebral fissure finding\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Eye / vision finding\Eyelid finding\Disorder of eyelid\Deformity of eyelid\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Eye / vision finding\Eyelid finding\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Eye / vision finding\Eyelid finding\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Deformity of eyelid\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Blepharophimosis, intellectual disability syndrome, Verloes type
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Deformity of eyelid\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Deformity of eyelid\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disease\Disorder of head\Disorder of face\Lesion of face\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital deformity of face\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disease\Disorder of head\Disorder of face\Disorder of eyelid\Deformity of eyelid\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disease\Disorder of head\Disorder of face\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disease\Disorder of head\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital deformity of face\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Congenital deformity of face\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital deformity of face\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disease\Developmental disorder\Developmental hereditary disorder\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Congenital deformity of face\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital deformity of face\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis, intellectual disability syndrome, Verloes type

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3736404010 Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

3736405011 Blepharophimosis, intellectual disability syndrome, Verloes type en Synonym Active Initial character case insensitive SNOMED CT core

3736406012 Blepharophimosis, intellectual disability syndrome type V en Synonym Active Initial character case insensitive SNOMED CT core

3736407015 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of congenital microcephaly, severe epilepsy with hypsarrhythmia, adducted thumbs, abnormal genitalia, and normal thyroid function. Hypotonia, moderate to severe psychomotor delay, and characteristic facial dysmorphism (including round face with prominent cheeks, blepharophimosis, large, bulbous nose with wide alae nasi, posteriorly rotated ears with dysplastic conchae, narrow mouth, cleft palate, and mild micrognathia) are additional characteristic features. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Blepharophimosis, intellectual disability syndrome, Verloes type	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Blepharophimosis, intellectual disability syndrome, Verloes type	Associated morphology	Narrowed structure	true	Inferred relationship	Some	1
Blepharophimosis, intellectual disability syndrome, Verloes type	Is a	Congenital blepharophimosis	false	Inferred relationship	Some
Blepharophimosis, intellectual disability syndrome, Verloes type	Is a	Intellectual disability	false	Inferred relationship	Some
Blepharophimosis, intellectual disability syndrome, Verloes type	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Blepharophimosis, intellectual disability syndrome, Verloes type	Is a	Multiple malformation syndrome with facial defects as major feature	false	Inferred relationship	Some
Blepharophimosis, intellectual disability syndrome, Verloes type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Blepharophimosis, intellectual disability syndrome, Verloes type	Occurrence	Congenital	true	Inferred relationship	Some	1
Blepharophimosis, intellectual disability syndrome, Verloes type	Finding site	Structure of palpebral fissure	true	Inferred relationship	Some	1
Blepharophimosis, intellectual disability syndrome, Verloes type	Is a	Congenital anomaly of eyelid	false	Inferred relationship	Some
Blepharophimosis, intellectual disability syndrome, Verloes type	Is a	Narrowing of palpebral fissure	false	Inferred relationship	Some
Blepharophimosis, intellectual disability syndrome, Verloes type	Is a	Blepharophimosis, intellectual disability syndrome	true	Inferred relationship	Some
Blepharophimosis, intellectual disability syndrome, Verloes type	Finding site	Eyelid structure	true	Inferred relationship	Some	2
Blepharophimosis, intellectual disability syndrome, Verloes type	Occurrence	Congenital	true	Inferred relationship	Some	2
Blepharophimosis, intellectual disability syndrome, Verloes type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Blepharophimosis, intellectual disability syndrome, Verloes type	Associated morphology	Deformity	true	Inferred relationship	Some	2
Blepharophimosis, intellectual disability syndrome, Verloes type	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Blepharophimosis, intellectual disability syndrome, Verloes type	Interprets	Intellectual ability	true	Inferred relationship	Some	3
Blepharophimosis, intellectual disability syndrome, Verloes type	Has interpretation	Impaired	true	Inferred relationship	Some	3
Blepharophimosis, intellectual disability syndrome, Verloes type	Interprets	Adaptation behaviour	true	Inferred relationship	Some	4
Blepharophimosis, intellectual disability syndrome, Verloes type	Has interpretation	Impaired	true	Inferred relationship	Some	4

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
3736404010	Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3736405011	Blepharophimosis, intellectual disability syndrome, Verloes type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3736406012	Blepharophimosis, intellectual disability syndrome type V	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3736407015	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of congenital microcephaly, severe epilepsy with hypsarrhythmia, adducted thumbs, abnormal genitalia, and normal thyroid function. Hypotonia, moderate to severe psychomotor delay, and characteristic facial dysmorphism (including round face with prominent cheeks, blepharophimosis, large, bulbous nose with wide alae nasi, posteriorly rotated ears with dysplastic conchae, narrow mouth, cleft palate, and mild micrognathia) are additional characteristic features.	en	Definition	Active	Case sensitive	SNOMED CT core