29352008: Thanatophoric dysplasia (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

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

\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
\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
\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
\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
\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

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Thanatophoric dysplasia
\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
\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
\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
\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
\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
\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
\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
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Thanatophoric dysplasia
\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
\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
\Disease\Developmental disorder (disorder)\Disorder of stature\Short stature disorder (disorder)\Thanatophoric dysplasia

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Thanatophoric dysplasia	Is a	Osteochondrodysplasia syndrome	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Thanatophoric dysplasia	Is a	Defects of the tubular (and flat) bones and/or axial skeleton	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Thanatophoric dysplasia	Is a	Dwarfism	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Thanatophoric dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Thanatophoric dysplasia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Thanatophoric dysplasia	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Thanatophoric dysplasia	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Thanatophoric dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Thanatophoric dysplasia	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Thanatophoric dysplasia	Is a	Short stature disorder (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Thanatophoric dysplasia	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Thanatophoric dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Thanatophoric dysplasia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Thanatophoric dysplasia	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Thanatophoric dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Thanatophoric dysplasia	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Thanatophoric dysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Thanatophoric dysplasia	Interprets	Height / growth measure (observable entity)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Thanatophoric dysplasia, type 1 (disorder)	Is a	True	Thanatophoric dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Thanatophoric dysplasia, type 2	Is a	True	Thanatophoric dysplasia	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
49116010	Thanatophoric dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
49117018	Thanatophoric dwarfism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
49118011	Thanatophoric dwarf	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
760237016	Thanatophoric dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1226349010	Thanatophoric dwarfism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1226350010	TD - Thanatophoric dwarfism	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3036339019	Thanatophoric short stature	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
49116010	Thanatophoric dysplasia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
49116010	Thanatophoric dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
49117018	Thanatophoric dwarfism syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
49117018	Thanatophoric dwarfism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
49118011	Thanatophoric dwarf	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
49118011	Thanatophoric dwarf	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
760237016	Thanatophoric dysplasia (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
760237016	Thanatophoric dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1226349010	Thanatophoric dwarfism	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1226349010	Thanatophoric dwarfism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1226350010	TD - Thanatophoric dwarfism	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1226350010	TD - Thanatophoric dwarfism	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3036339019	Thanatophoric short stature	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3036339019	Thanatophoric short stature	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3385441001000119	Thanatophore Dysplasie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
911901000172114	dysplasie thanatophore	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1016451000172118	nanisme thanatophore	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
911901000172114	dysplasie thanatophore	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1016451000172118	nanisme thanatophore	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3385441001000119	Thanatophore Dysplasie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module