788584007: Blepharophimosis, intellectual disability syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Deformity (finding)\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)
\Deformity (finding)\Congenital deformity\Congenital deformity of face (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)

\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\Blepharophimosis, intellectual disability syndrome (disorder)
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\Blepharophimosis, intellectual disability syndrome (disorder)
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\Blepharophimosis, intellectual disability syndrome (disorder)
\Head finding (finding)\Finding of head region\Finding of face\Eyelid finding\Palpebral fissure finding (finding)\Narrowing of palpebral fissure\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\Blepharophimosis, intellectual disability syndrome (disorder)
\Head finding (finding)\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)
\Head finding (finding)\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\Blepharophimosis, intellectual disability syndrome (disorder)
\Head finding (finding)\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\Blepharophimosis, intellectual disability syndrome (disorder)
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Lesion of face\Lesion of eyelid\Narrowing of palpebral fissure\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\Blepharophimosis, intellectual disability syndrome (disorder)
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\Blepharophimosis, intellectual disability syndrome (disorder)
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome (disorder)
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\Blepharophimosis, intellectual disability syndrome (disorder)
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\Blepharophimosis, intellectual disability syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\Blepharophimosis, intellectual disability syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\Blepharophimosis, intellectual disability syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\Blepharophimosis, intellectual disability syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Lesion of face\Lesion of eyelid\Narrowing of palpebral fissure\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\Blepharophimosis, intellectual disability syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\Blepharophimosis, intellectual disability syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\Blepharophimosis, intellectual disability syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\Blepharophimosis, intellectual disability syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\Blepharophimosis, intellectual disability syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\Blepharophimosis, intellectual disability syndrome (disorder)

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Genetic intellectual disability\Blepharophimosis, intellectual disability syndrome (disorder)

\Eye / vision finding\Eyelid finding\Palpebral fissure finding (finding)\Narrowing of palpebral fissure\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\Blepharophimosis, intellectual disability syndrome (disorder)
\Eye / vision finding\Eyelid finding\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)
\Eye / vision finding\Eyelid finding\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\Blepharophimosis, intellectual disability syndrome (disorder)
\Eye / vision finding\Eyelid finding\Disorder of eyelid\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\Blepharophimosis, intellectual disability syndrome (disorder)
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\Blepharophimosis, intellectual disability syndrome (disorder)
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\Blepharophimosis, intellectual disability syndrome (disorder)
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\Blepharophimosis, intellectual disability syndrome (disorder)
\Eye / vision finding\Visual system disorder (disorder)\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\Blepharophimosis, intellectual disability syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Genetic intellectual disability\Blepharophimosis, intellectual disability syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\Blepharophimosis, intellectual disability syndrome (disorder)
\Functional finding\Intelligence finding (finding)\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\Blepharophimosis, intellectual disability syndrome (disorder)

\Disease\Genetic disease\Genetic intellectual disability\Blepharophimosis, intellectual disability syndrome (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital deformity\Congenital deformity of face (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\Blepharophimosis, intellectual disability syndrome (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\Blepharophimosis, intellectual disability syndrome (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\Blepharophimosis, intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\Blepharophimosis, intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\Blepharophimosis, intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\Blepharophimosis, intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder (disorder)\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\Blepharophimosis, intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\Blepharophimosis, intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\Blepharophimosis, intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\Blepharophimosis, intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Lesion of face\Lesion of eyelid\Narrowing of palpebral fissure\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\Blepharophimosis, intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\Blepharophimosis, intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\Blepharophimosis, intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\Blepharophimosis, intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\Blepharophimosis, intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\Blepharophimosis, intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder is a behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions.\Intellectual disability\Genetic intellectual disability\Blepharophimosis, intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Congenital deformity of face (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\Blepharophimosis, intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\Blepharophimosis, intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi\Blepharophimosis, intellectual disability syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5066752017 Blepharophimosis, intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5066753010 Blepharophimosis, intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5807121000241112 syndrome de blépharophimosis et déficience intellectuelle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5807131000241114 BMRS - blepharophimosis and mental retardation syndrome fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

506451000274112 BMRS - Blepharophimose-Intelligenzminderung-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

548471000274111 Blepharophimose-Intelligenzminderung-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Blepharophimosis, intellectual disability syndrome (disorder)	Is a	A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	true	Inferred relationship	Some
Blepharophimosis, intellectual disability syndrome (disorder)	Is a	Congenital deformity of face (disorder)	true	Inferred relationship	Some
Blepharophimosis, intellectual disability syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Blepharophimosis, intellectual disability syndrome (disorder)	Is a	Intellectual disability	false	Inferred relationship	Some
Blepharophimosis, intellectual disability syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Blepharophimosis, intellectual disability syndrome (disorder)	Finding site	Eyelid structure	true	Inferred relationship	Some	2
Blepharophimosis, intellectual disability syndrome (disorder)	Is a	Deformity of eyelid (disorder)	true	Inferred relationship	Some
Blepharophimosis, intellectual disability syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Blepharophimosis, intellectual disability syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Blepharophimosis, intellectual disability syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Blepharophimosis, intellectual disability syndrome (disorder)	Associated morphology	Deformity	true	Inferred relationship	Some	2
Blepharophimosis, intellectual disability syndrome (disorder)	Associated morphology	Narrowed structure (morphologic abnormality)	true	Inferred relationship	Some	1
Blepharophimosis, intellectual disability syndrome (disorder)	Finding site	Structure of palpebral fissure (body structure)	true	Inferred relationship	Some	1
Blepharophimosis, intellectual disability syndrome (disorder)	Interprets	Intellectual ability	true	Inferred relationship	Some	3
Blepharophimosis, intellectual disability syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3
Blepharophimosis, intellectual disability syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	4
Blepharophimosis, intellectual disability syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4
Blepharophimosis, intellectual disability syndrome (disorder)	Is a	Genetic intellectual disability	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare multiple congenital malformation syndrome with characteristics of blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. Abnormal ears, microcephaly, and growth retardation have been reported occasionally. Male patients may show cryptorchidism and scrotal hypoplasia. Most reported cases are sporadic, except the original cases of Ohdo who described two affected sisters and a first cousin, suggesting autosomal recessive inheritance. Autosomal dominant, X-linked- and mitochondrial inheritance have also been suggested.	Is a	True	Blepharophimosis, intellectual disability syndrome (disorder)	Inferred relationship	Some
Ohdo syndrome, Maat-Kievit-Brunner type	Is a	True	Blepharophimosis, intellectual disability syndrome (disorder)	Inferred relationship	Some
A rare, genetic, multiple congenital anomalies syndrome characterized by the association of a typical facial phenotype with microcephaly associated with congenital hypothyroidism, skeletal involvement (polydactyly, long thumb(s) and long first toe(s), and patellar hypoplasia/agenesis), and some degree of global developmental delay, hypotonia and intellectual disability. Facial features include an immobile mask-like face, severe blepharophimosis and ptosis, tear duct abnormalities, a broad nasal bridge, bulbous nasal tip, small mouth, thin upper lip, hypoplastic teeth and small, low set ears. Renal and genital anomalies, usually cryptorchidism, are often present in affected males. Congenital heart defects and growth delay are variably present.	Is a	True	Blepharophimosis, intellectual disability syndrome (disorder)	Inferred relationship	Some
A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by 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.	Is a	True	Blepharophimosis, intellectual disability syndrome (disorder)	Inferred relationship	Some

Reference Sets