389157002: Thanatophoric dysplasia, type 1 (disorder)

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

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

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

\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\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 (finding)\Disorder of musculoskeletal system (disorder)\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 (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\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 (finding)\Disorder of musculoskeletal system (disorder)\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 (finding)\Disorder of musculoskeletal system (disorder)\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\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Thanatophoric dysplasia\Thanatophoric dysplasia, type 1 (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\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\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)\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)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\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)\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 (disorder)\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)\Disorder of bone development\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)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Thanatophoric dysplasia\Thanatophoric dysplasia, type 1 (disorder)
\Disease\Developmental disorder (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 (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)\Disorder of stature\Short stature disorder (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	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Thanatophoric dysplasia, type 1 (disorder)	Is a	Thanatophoric dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Thanatophoric dysplasia, type 1 (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Thanatophoric dysplasia, type 1 (disorder)	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Thanatophoric dysplasia, type 1 (disorder)	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Thanatophoric dysplasia, type 1 (disorder)	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Thanatophoric dysplasia, type 1 (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Thanatophoric dysplasia, type 1 (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Thanatophoric dysplasia, type 1 (disorder)	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Thanatophoric dysplasia, type 1 (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Thanatophoric dysplasia, type 1 (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Thanatophoric dysplasia, type 1 (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Thanatophoric dysplasia, type 1 (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Thanatophoric dysplasia, type 1 (disorder)	Interprets	Height / growth measure (observable entity)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	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
1463336013	Thanatophoric dysplasia, type 1 (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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
903671000172111	dysplasie thanatophore type 1	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
924791000172113	nanisme thanatophore type 1	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
903671000172111	dysplasie thanatophore type 1	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
924791000172113	nanisme thanatophore type 1	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module