254117007: Dysplasia with defective mineralization (disorder)

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

\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with defective mineralization
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with defective mineralization
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with defective mineralization
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with defective mineralization
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with defective mineralization

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with defective mineralization
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with defective mineralization
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with defective mineralization
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with defective mineralization
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with defective mineralization
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with defective mineralization
\Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with defective mineralization
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with defective mineralization
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with defective mineralization

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dysplasia with defective mineralization	Is a	Skeletal dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysplasia with defective mineralization	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysplasia with defective mineralization	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysplasia with defective mineralization	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysplasia with defective mineralization	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysplasia with defective mineralization	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysplasia with defective mineralization	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysplasia with defective mineralization	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysplasia with defective mineralization	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dysplasia with defective mineralization	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dysplasia with defective mineralization	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dysplasia with defective mineralization	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysplasia with defective mineralization	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysplasia with defective mineralization	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysplasia with defective mineralization	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dysplasia with defective mineralization	Associated morphology	Impaired mineralization (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Familial x-linked hypophosphatemic vitamin D refractory rickets	Is a	True	Dysplasia with defective mineralization	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant hypophosphatemic bone disease	Is a	True	Dysplasia with defective mineralization	Inferred relationship	Existential restriction modifier (core metadata concept)
Ossification anomaly with psychomotor developmental delay syndrome	Is a	True	Dysplasia with defective mineralization	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare ciliopathy characterized by congenital cataract with secondary glaucoma, developmental delay, short stature, multiple skeletal abnormalities (spinal deformities, limb anomalies, delayed bone age), dental anomalies (oligodontia, enamel defects), dysmorphic facial features (including coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges, and retrognathia), and stroke. Other recurrent manifestations are hearing loss and nephrocalcinosis.	Is a	True	Dysplasia with defective mineralization	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
378281019	Dysplasia with defective mineralization	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
378282014	Dysplasia with defective mineralisation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
644965011	Dysplasia with defective mineralization (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
378281019	Dysplasia with defective mineralization	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
378281019	Dysplasia with defective mineralization	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
378282014	Dysplasia with defective mineralisation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
378282014	Dysplasia with defective mineralisation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
644965011	Dysplasia with defective mineralization (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
644965011	Dysplasia with defective mineralization (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5081921000241116	Dysplasie avec un défaut de minéralisation	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5081921000241116	Dysplasie avec un défaut de minéralisation	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module