29352008: Thanatophoric dysplasia (disorder)

SNOMED CT Concept\Clinical finding\...

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

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Thanatophoric dysplasia

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

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

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

Descriptions:

Id Description Lang Type Status Case? Module

49116010 Thanatophoric dysplasia en Synonym Active Entire term case insensitive SNOMED CT core module

49117018 Thanatophoric dwarfism syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

49118011 Thanatophoric dwarf en Synonym Active Entire term case insensitive SNOMED CT core module

760237016 Thanatophoric dysplasia (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

1226349010 Thanatophoric dwarfism en Synonym Active Entire term case insensitive SNOMED CT core module

1226350010 TD - Thanatophoric dwarfism en Synonym Active Entire term case sensitive SNOMED CT core module

3036339019 Thanatophoric short stature en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Thanatophoric dysplasia, type 1	Is a	True	Thanatophoric dysplasia	Inferred relationship	Existential restriction modifier
Thanatophoric dysplasia, type 2	Is a	True	Thanatophoric dysplasia	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
49116010	Thanatophoric dysplasia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
49117018	Thanatophoric dwarfism syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
49118011	Thanatophoric dwarf	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
760237016	Thanatophoric dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
1226349010	Thanatophoric dwarfism	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
1226350010	TD - Thanatophoric dwarfism	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3036339019	Thanatophoric short stature	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module