722111004: Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Jun 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3330735017 Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3330736016 Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3330737013 This syndrome has characteristics of severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, osteopenia with frequent fractures, severe myopia, mild to moderate sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to first-cousin parents. No chromosomal anomalies were detected. Transmission appears to be autosomal recessive or X-linked. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5266581000172117 syndroom van osteopenie, myopie, gehoorverlies, verstandelijke handicap en faciale dysmorfie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5266591000172119 syndroom van osteopenie, myopie, gehoorverlies, verstandelijke beperking en faciale dysmorfie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5266601000172112 syndroom van osteopenie, myopie, gehoorverlies, mentale retardatie en faciale dysmorfie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
syndroom van osteopenie, myopie, gehoorverlies, verstandelijke beperking en faciale dysmorfie	Is a	Sensorineural hearing loss	false	Inferred relationship	Some
syndroom van osteopenie, myopie, gehoorverlies, verstandelijke beperking en faciale dysmorfie	Is a	Multiple malformation syndrome with facial defects as major feature	false	Inferred relationship	Some
syndroom van osteopenie, myopie, gehoorverlies, verstandelijke beperking en faciale dysmorfie	Is a	retard mental	false	Inferred relationship	Some
syndroom van osteopenie, myopie, gehoorverlies, verstandelijke beperking en faciale dysmorfie	Is a	Congenital hearing disorder	false	Inferred relationship	Some
syndroom van osteopenie, myopie, gehoorverlies, verstandelijke beperking en faciale dysmorfie	Is a	Osteopenia	false	Inferred relationship	Some
syndroom van osteopenie, myopie, gehoorverlies, verstandelijke beperking en faciale dysmorfie	Is a	Auditory system hereditary disorder	false	Inferred relationship	Some
syndroom van osteopenie, myopie, gehoorverlies, verstandelijke beperking en faciale dysmorfie	Is a	Congenital connective tissue disorder	false	Inferred relationship	Some
syndroom van osteopenie, myopie, gehoorverlies, verstandelijke beperking en faciale dysmorfie	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
syndroom van osteopenie, myopie, gehoorverlies, verstandelijke beperking en faciale dysmorfie	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
syndroom van osteopenie, myopie, gehoorverlies, verstandelijke beperking en faciale dysmorfie	Finding site	Structure of auditory system (body structure)	false	Inferred relationship	Some	3
syndroom van osteopenie, myopie, gehoorverlies, verstandelijke beperking en faciale dysmorfie	Interprets	Hearing	false	Inferred relationship	Some	4
syndroom van osteopenie, myopie, gehoorverlies, verstandelijke beperking en faciale dysmorfie	Interprets	Functional observable	false	Inferred relationship	Some
syndroom van osteopenie, myopie, gehoorverlies, verstandelijke beperking en faciale dysmorfie	Associated morphology	Osteopenia	false	Inferred relationship	Some	5
syndroom van osteopenie, myopie, gehoorverlies, verstandelijke beperking en faciale dysmorfie	Occurrence	Congenital	false	Inferred relationship	Some	5
syndroom van osteopenie, myopie, gehoorverlies, verstandelijke beperking en faciale dysmorfie	Finding site	Bone structure	false	Inferred relationship	Some	5
syndroom van osteopenie, myopie, gehoorverlies, verstandelijke beperking en faciale dysmorfie	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	6
syndroom van osteopenie, myopie, gehoorverlies, verstandelijke beperking en faciale dysmorfie	Occurrence	Congenital	false	Inferred relationship	Some	6
syndroom van osteopenie, myopie, gehoorverlies, verstandelijke beperking en faciale dysmorfie	Finding site	Face structure	false	Inferred relationship	Some	6
syndroom van osteopenie, myopie, gehoorverlies, verstandelijke beperking en faciale dysmorfie	Is a	Intellectual disability	false	Inferred relationship	Some
syndroom van osteopenie, myopie, gehoorverlies, verstandelijke beperking en faciale dysmorfie	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
syndroom van osteopenie, myopie, gehoorverlies, verstandelijke beperking en faciale dysmorfie	Is a	Congenital anomaly of skeletal bone	false	Inferred relationship	Some
syndroom van osteopenie, myopie, gehoorverlies, verstandelijke beperking en faciale dysmorfie	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
syndroom van osteopenie, myopie, gehoorverlies, verstandelijke beperking en faciale dysmorfie	Occurrence	Congenital	false	Inferred relationship	Some	1
syndroom van osteopenie, myopie, gehoorverlies, verstandelijke beperking en faciale dysmorfie	Occurrence	Congenital	false	Inferred relationship	Some	2
syndroom van osteopenie, myopie, gehoorverlies, verstandelijke beperking en faciale dysmorfie	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	1
syndroom van osteopenie, myopie, gehoorverlies, verstandelijke beperking en faciale dysmorfie	Finding site	Face structure	false	Inferred relationship	Some	1
syndroom van osteopenie, myopie, gehoorverlies, verstandelijke beperking en faciale dysmorfie	Associated morphology	Osteopenia	false	Inferred relationship	Some	2
syndroom van osteopenie, myopie, gehoorverlies, verstandelijke beperking en faciale dysmorfie	Finding site	Bone structure	false	Inferred relationship	Some	2
syndroom van osteopenie, myopie, gehoorverlies, verstandelijke beperking en faciale dysmorfie	Is a	Developmental hereditary disorder	false	Inferred relationship	Some

Inbound Relationships

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Reference Sets

Concept inactivation indicator reference set

GB English

US English

REPLACED BY association reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3330735017	Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330736016	Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330737013	This syndrome has characteristics of severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, osteopenia with frequent fractures, severe myopia, mild to moderate sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to first-cousin parents. No chromosomal anomalies were detected. Transmission appears to be autosomal recessive or X-linked.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5266581000172117	syndroom van osteopenie, myopie, gehoorverlies, verstandelijke handicap en faciale dysmorfie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5266591000172119	syndroom van osteopenie, myopie, gehoorverlies, verstandelijke beperking en faciale dysmorfie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5266601000172112	syndroom van osteopenie, myopie, gehoorverlies, mentale retardatie en faciale dysmorfie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)