784010006: Otopalatodigital syndrome spectrum disorder (disorder)

SNOMED CT Concept\Clinical finding\...

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Otopalatodigital syndrome spectrum disorder
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Otopalatodigital syndrome spectrum disorder
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Otopalatodigital syndrome spectrum disorder
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Otopalatodigital syndrome spectrum disorder
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Otopalatodigital syndrome spectrum disorder
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked dominant hereditary disease\Otopalatodigital syndrome spectrum disorder
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Otopalatodigital syndrome spectrum disorder
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Otopalatodigital syndrome spectrum disorder
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Otopalatodigital syndrome spectrum disorder
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Otopalatodigital syndrome spectrum disorder
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Otopalatodigital syndrome spectrum disorder
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder
\Disease\Developmental disorder\Developmental hereditary disorder\Otopalatodigital syndrome spectrum disorder
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Otopalatodigital syndrome spectrum disorder
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3761048015 Otopalatodigital syndrome spectrum disorder en Synonym Active Case insensitive SNOMED CT core

3761049011 OPD (otopalatodigital) spectrum disorder en Synonym Active Case sensitive SNOMED CT core

3761050011 Otopalatodigital syndrome spectrum disorder (disorder) en Fully specified name Active Case insensitive 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 Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Otopalatodigital syndrome spectrum disorder	Is a	Congenital skeletal dysplasia	true	Inferred relationship	Some
Otopalatodigital syndrome spectrum disorder	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Otopalatodigital syndrome spectrum disorder	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Otopalatodigital syndrome spectrum disorder	Finding site	Bone structure	true	Inferred relationship	Some	1
Otopalatodigital syndrome spectrum disorder	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Otopalatodigital syndrome spectrum disorder	Occurrence	Congenital	true	Inferred relationship	Some	1
Otopalatodigital syndrome spectrum disorder	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Otopalatodigital syndrome spectrum disorder	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Otopalatodigital syndrome spectrum disorder	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Otopalatodigital syndrome spectrum disorder	Is a	X-linked dominant hereditary disease	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Frontometaphyseal dysplasia	Is a	True	Otopalatodigital syndrome spectrum disorder	Inferred relationship	Some
Terminal osseous dysplasia and pigmentary defect syndrome	Is a	True	Otopalatodigital syndrome spectrum disorder	Inferred relationship	Some
Oto-palato-digital syndrome, type I	Is a	True	Otopalatodigital syndrome spectrum disorder	Inferred relationship	Some
Oto-palato-digital syndrome, type II	Is a	True	Otopalatodigital syndrome spectrum disorder	Inferred relationship	Some
Melnick-Needles syndrome	Is a	True	Otopalatodigital syndrome spectrum disorder	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3761048015	Otopalatodigital syndrome spectrum disorder	en	Synonym	Active	Case insensitive	SNOMED CT core
3761049011	OPD (otopalatodigital) spectrum disorder	en	Synonym	Active	Case sensitive	SNOMED CT core
3761050011	Otopalatodigital syndrome spectrum disorder (disorder)	en	Fully specified name	Active	Case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core