788584007: Blepharophimosis, intellectual disability syndrome (disorder)

\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)

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

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	true	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 (morphologic abnormality)	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	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

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
Rare syndrome with the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay.	Is a	True	Blepharophimosis, intellectual disability syndrome (disorder)	Inferred relationship	Some
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.	Is a	True	Blepharophimosis, intellectual disability syndrome (disorder)	Inferred relationship	Some

Reference Sets

Description inactivation indicator reference set

GB English

US English

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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