254101001: Osteodysplastic primordial dwarfism (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Body measurement finding\Height / growth finding (finding)\General finding of height\Disorder of stature\Short stature disorder\Primordial dwarfism\Osteodysplastic primordial dwarfism

\Finding of general physiological development\Disorder of stature\Short stature disorder\Primordial dwarfism\Osteodysplastic primordial dwarfism

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Congenital skeletal dysplasia (disorder)\Osteodysplastic primordial dwarfism
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Osteodysplastic primordial dwarfism
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Osteodysplastic primordial dwarfism
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Osteodysplastic primordial dwarfism
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Congenital skeletal dysplasia (disorder)\Osteodysplastic primordial dwarfism
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Osteodysplastic primordial dwarfism
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Osteodysplastic primordial dwarfism
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Osteodysplastic primordial dwarfism
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Primordial dwarfism\Osteodysplastic primordial dwarfism

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

378260019 Osteodysplastic primordial dwarfism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

644946015 Osteodysplastic primordial dwarfism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5081821000241110 nanisme ostéodysplasique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Osteodysplastic primordial dwarfism	Is a	Osteochondrodysplasia syndrome	true	Inferred relationship	Some
Osteodysplastic primordial dwarfism	Is a	Congenital skeletal dysplasia (disorder)	true	Inferred relationship	Some
Osteodysplastic primordial dwarfism	Finding site	Bone structure	true	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism	Occurrence	Congenital	false	Inferred relationship	Some
Osteodysplastic primordial dwarfism	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Osteodysplastic primordial dwarfism	Finding site	Bone structure	false	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism	Occurrence	Congenital	false	Inferred relationship	Some	2
Osteodysplastic primordial dwarfism	Finding site	Bone structure	false	Inferred relationship	Some	2
Osteodysplastic primordial dwarfism	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Osteodysplastic primordial dwarfism	Is a	Primordial dwarfism	true	Inferred relationship	Some
Osteodysplastic primordial dwarfism	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism	Occurrence	Congenital	true	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Osteodysplastic primordial dwarfism	Interprets	Height / growth measure	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Osteodysplastic primordial dwarfism, type 1	Is a	True	Osteodysplastic primordial dwarfism	Inferred relationship	Some
Osteodysplastic primordial dwarfism, type 2	Is a	False	Osteodysplastic primordial dwarfism	Inferred relationship	Some
Microcephalic osteodysplastic dysplasia, Saul-Wilson type is a skeletal dysplasia characterised by a distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly. It has been described in four patients. Facial features include frontal bossing with a depression over the metopic suture, a narrow nasal root with a beaked nose, and midfacial hypoplasia with prominent eyes. Characteristic radiographic findings are observed (irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges, coning several epiphyses etc.).	Is a	True	Osteodysplastic primordial dwarfism	Inferred relationship	Some
A rare, severe, primary bone dysplasia characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies.	Is a	True	Osteodysplastic primordial dwarfism	Inferred relationship	Some
A rare bone disease and a form of microcephalic primordial dwarfism characterised by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.	Is a	True	Osteodysplastic primordial dwarfism	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
378260019	Osteodysplastic primordial dwarfism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
644946015	Osteodysplastic primordial dwarfism (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5081821000241110	nanisme ostéodysplasique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module