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716189005: Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation à propos d'une région de la tête et du cou\Head finding (finding)\...

\Finding of head circumference\Macrocephaly (finding)\Congenital macrocephaly (disorder)\Heide syndrome

\affection de la tête\Congenital anomaly of head\Congenital macrocephaly (disorder)\Heide syndrome

\constatation à propos des yeux ou de la vue\affection du système visuel\...

\Hereditary disorder of the visual system\Heide syndrome

\Congenital anomaly of visual system\Heide syndrome

\constatation générale à propos de l'observation du patient\Body measurement finding\Finding of head circumference\Macrocephaly (finding)\Congenital macrocephaly (disorder)\Heide syndrome

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Heide syndrome
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Heide syndrome
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Heide syndrome
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Heide syndrome
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Heide syndrome
\Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Heide syndrome
\Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Heide syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Heide syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Heide syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Heide syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Heide syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Heide syndrome
\Disease\affection de la tête\Congenital anomaly of head\Congenital macrocephaly (disorder)\Heide syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Heide syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly (disorder)\Heide syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Heide syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Heide syndrome
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Heide syndrome
\Disease\trouble du développement\Developmental hereditary disorder\Heide syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Heide syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly (disorder)\Heide syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Heide syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Heide syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3305025017 Heide syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3305027013 Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3305028015 Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3305029011 Osteoporosis and macrocephaly with blindness and joint hyperlaxity syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3305026016 This syndrome has characteristics of osteoporosis, macrocephalus, brachytelephalangy, and hyperextensibility of the joints. Congenital amaurosis and intellectual deficit have also been reported. This syndrome has been described in three members of one family. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Heide syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Heide syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Heide syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Heide syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Heide syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Heide syndrome	localisation d'une constatation (attribut)	Entire head	false	Inferred relationship	Some	1
Heide syndrome	morphologie associée (attribut)	Congenital enlargement (morphologic abnormality)	false	Inferred relationship	Some	1
Heide syndrome	localisation d'une constatation (attribut)	Structure of visual system (body structure)	true	Inferred relationship	Some	2
Heide syndrome	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	2
Heide syndrome	est un(e) (attribut)	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Heide syndrome	morphologie associée (attribut)	Enlargement (morphologic abnormality)	true	Inferred relationship	Some	3
Heide syndrome	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
Heide syndrome	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	1
Heide syndrome	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Heide syndrome	interprète (attribut)	Head circumference	true	Inferred relationship	Some	4
Heide syndrome	localisation d'une constatation (attribut)	structure de la tête	true	Inferred relationship	Some	3
Heide syndrome	est un(e) (attribut)	Congenital macrocephaly (disorder)	true	Inferred relationship	Some
Heide syndrome	a pour interprétation (attribut)	au-dessus de l'étendue de référence	true	Inferred relationship	Some	4
Heide syndrome	est un(e) (attribut)	Macrocephaly	false	Inferred relationship	Some
Heide syndrome	est un(e) (attribut)	Skeletal dysplasia	true	Inferred relationship	Some
Heide syndrome	est un(e) (attribut)	Congenital anomaly of visual system	true	Inferred relationship	Some
Heide syndrome	est un(e) (attribut)	Connective tissue hereditary disorder	false	Inferred relationship	Some
Heide syndrome	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Heide syndrome	est un(e) (attribut)	Hereditary disorder of the visual system	true	Inferred relationship	Some
Heide syndrome	morphologie associée (attribut)	Congenital enlargement (morphologic abnormality)	false	Inferred relationship	Some	3
Heide syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	3
Heide syndrome	localisation d'une constatation (attribut)	Entire head	false	Inferred relationship	Some	3
Heide syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some	4
Heide syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some	5
Heide syndrome	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	3
Heide syndrome	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	3
Heide syndrome	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	4
Heide syndrome	localisation d'une constatation (attribut)	Structure of visual system (body structure)	false	Inferred relationship	Some	4
Heide syndrome	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	5
Heide syndrome	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3305025017	Heide syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3305027013	Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3305028015	Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3305029011	Osteoporosis and macrocephaly with blindness and joint hyperlaxity syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3305026016	This syndrome has characteristics of osteoporosis, macrocephalus, brachytelephalangy, and hyperextensibility of the joints. Congenital amaurosis and intellectual deficit have also been reported. This syndrome has been described in three members of one family.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core