784010006: Otopalatodigital syndrome spectrum disorder (disorder)

SNOMED CT Concept\constatation clinique\...

\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Otopalatodigital syndrome spectrum disorder
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Otopalatodigital syndrome spectrum disorder
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Otopalatodigital syndrome spectrum disorder
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Otopalatodigital syndrome spectrum disorder
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Otopalatodigital syndrome spectrum disorder
\Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked dominant hereditary disease (disorder)\Otopalatodigital syndrome spectrum disorder
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Otopalatodigital syndrome spectrum disorder
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Otopalatodigital syndrome spectrum disorder
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Otopalatodigital syndrome spectrum disorder
\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\Otopalatodigital syndrome spectrum disorder
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Otopalatodigital syndrome spectrum disorder
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Otopalatodigital syndrome spectrum disorder
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder
\Disease\trouble du développement\Developmental hereditary disorder\Otopalatodigital syndrome spectrum disorder
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Otopalatodigital syndrome spectrum disorder
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3761048015 Otopalatodigital syndrome spectrum disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3761049011 OPD (otopalatodigital) spectrum disorder en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3761050011 Otopalatodigital syndrome spectrum disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3761255014 A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterised by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterised in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3761256010 A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects. 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
Otopalatodigital syndrome spectrum disorder	est un(e) (attribut)	Skeletal dysplasia	true	Inferred relationship	Some
Otopalatodigital syndrome spectrum disorder	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Otopalatodigital syndrome spectrum disorder	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
Otopalatodigital syndrome spectrum disorder	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	1
Otopalatodigital syndrome spectrum disorder	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Otopalatodigital syndrome spectrum disorder	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Otopalatodigital syndrome spectrum disorder	est un(e) (attribut)	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Otopalatodigital syndrome spectrum disorder	est un(e) (attribut)	X-linked hereditary disease	false	Inferred relationship	Some
Otopalatodigital syndrome spectrum disorder	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Otopalatodigital syndrome spectrum disorder	est un(e) (attribut)	X-linked dominant hereditary disease (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
dysplasie fronto-métaphysaire	est un(e) (attribut)	True	Otopalatodigital syndrome spectrum disorder	Inferred relationship	Some
syndrome de dysplasie osseuse terminale-défauts de pigmentation	est un(e) (attribut)	True	Otopalatodigital syndrome spectrum disorder	Inferred relationship	Some
syndrome oto-palato-digital type 1 (trouble)	est un(e) (attribut)	True	Otopalatodigital syndrome spectrum disorder	Inferred relationship	Some
syndrome oto-palato-digital type 2 (trouble)	est un(e) (attribut)	True	Otopalatodigital syndrome spectrum disorder	Inferred relationship	Some
Melnick-Needles syndrome	est un(e) (attribut)	True	Otopalatodigital syndrome spectrum disorder	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3761048015	Otopalatodigital syndrome spectrum disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3761049011	OPD (otopalatodigital) spectrum disorder	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3761050011	Otopalatodigital syndrome spectrum disorder (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3761255014	A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterised by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterised in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3761256010	A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core