389157002: thanatofore dysplasie type 1 (aandoening)

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

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Thanatophoric dysplasia\Thanatophoric dysplasia, type 1 (disorder)

\Finding of general physiological development\Disorder of stature\Short stature disorder\Thanatophoric dysplasia\Thanatophoric dysplasia, type 1 (disorder)

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Defects of the tubular (and flat) bones and/or axial skeleton\Thanatophoric dysplasia\Thanatophoric dysplasia, type 1 (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Defects of the tubular (and flat) bones and/or axial skeleton\Thanatophoric dysplasia\Thanatophoric dysplasia, type 1 (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Defects of the tubular (and flat) bones and/or axial skeleton\Thanatophoric dysplasia\Thanatophoric dysplasia, type 1 (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Defects of the tubular (and flat) bones and/or axial skeleton\Thanatophoric dysplasia\Thanatophoric dysplasia, type 1 (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Defects of the tubular (and flat) bones and/or axial skeleton\Thanatophoric dysplasia\Thanatophoric dysplasia, type 1 (disorder)

\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Defects of the tubular (and flat) bones and/or axial skeleton\Thanatophoric dysplasia\Thanatophoric dysplasia, type 1 (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Thanatophoric dysplasia\Thanatophoric dysplasia, type 1 (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Defects of the tubular (and flat) bones and/or axial skeleton\Thanatophoric dysplasia\Thanatophoric dysplasia, type 1 (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Defects of the tubular (and flat) bones and/or axial skeleton\Thanatophoric dysplasia\Thanatophoric dysplasia, type 1 (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Defects of the tubular (and flat) bones and/or axial skeleton\Thanatophoric dysplasia\Thanatophoric dysplasia, type 1 (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Defects of the tubular (and flat) bones and/or axial skeleton\Thanatophoric dysplasia\Thanatophoric dysplasia, type 1 (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Defects of the tubular (and flat) bones and/or axial skeleton\Thanatophoric dysplasia\Thanatophoric dysplasia, type 1 (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Defects of the tubular (and flat) bones and/or axial skeleton\Thanatophoric dysplasia\Thanatophoric dysplasia, type 1 (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Defects of the tubular (and flat) bones and/or axial skeleton\Thanatophoric dysplasia\Thanatophoric dysplasia, type 1 (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Defects of the tubular (and flat) bones and/or axial skeleton\Thanatophoric dysplasia\Thanatophoric dysplasia, type 1 (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Thanatophoric dysplasia\Thanatophoric dysplasia, type 1 (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Defects of the tubular (and flat) bones and/or axial skeleton\Thanatophoric dysplasia\Thanatophoric dysplasia, type 1 (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Defects of the tubular (and flat) bones and/or axial skeleton\Thanatophoric dysplasia\Thanatophoric dysplasia, type 1 (disorder)
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Thanatophoric dysplasia\Thanatophoric dysplasia, type 1 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2003. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Thanatophoric dysplasia, type 1 (disorder)	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Thanatophoric dysplasia, type 1 (disorder)	Is a	Thanatophoric dysplasia	true	Inferred relationship	Some
Thanatophoric dysplasia, type 1 (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Thanatophoric dysplasia, type 1 (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	1
Thanatophoric dysplasia, type 1 (disorder)	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Thanatophoric dysplasia, type 1 (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	1
Thanatophoric dysplasia, type 1 (disorder)	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Thanatophoric dysplasia, type 1 (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Thanatophoric dysplasia, type 1 (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	2
Thanatophoric dysplasia, type 1 (disorder)	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	2
Thanatophoric dysplasia, type 1 (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Thanatophoric dysplasia, type 1 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Thanatophoric dysplasia, type 1 (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Thanatophoric dysplasia, type 1 (disorder)	Interprets	Height / growth measure	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
1463336013	Thanatophoric dysplasia, type 1 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1483209017	Thanatophoric dysplasia, type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6734021000146110	TD1	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6734031000146112	thanatofore dysplasie type 1 (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6734041000146116	thanatofore dysplasie type 1	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6734051000146118	thanatofore dwerggroei type 1	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)