389157002: Thanatophoric dysplasia, type 1 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Deformity (finding)\Deformity of limb (finding)\Lethal congenital disproportionate short limbed short stature (disorder)\Thanatophoric dysplasia\Thanatophoric dysplasia, type 1 (disorder)
• \Deformity (finding)\Congenital deformity\Lethal congenital disproportionate short limbed short stature (disorder)\Thanatophoric dysplasia\Thanatophoric dysplasia, type 1 (disorder)
• \Body measurement finding\Height / growth finding (finding)\General finding of height\Disorder of stature\Short stature disorder\Disproportionate short stature (disorder)\Lethal congenital disproportionate short limbed short stature (disorder)\Thanatophoric dysplasia\Thanatophoric dysplasia, type 1 (disorder)
• \Finding of limb structure\Deformity of limb (finding)\Lethal congenital disproportionate short limbed short stature (disorder)\Thanatophoric dysplasia\Thanatophoric dysplasia, type 1 (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Lethal congenital disproportionate short limbed short stature (disorder)\Thanatophoric dysplasia\Thanatophoric dysplasia, type 1 (disorder)
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Disproportionate short stature (disorder)\Lethal congenital disproportionate short limbed 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)\Disorder of skeletal system\Congenital skeletal dysplasia (disorder)\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)\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 (disorder)\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\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)\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\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Thanatophoric dysplasia\Thanatophoric dysplasia, type 1 (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital deformity\Lethal congenital disproportionate short limbed short stature (disorder)\Thanatophoric dysplasia\Thanatophoric dysplasia, type 1 (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Defects of the tubular (and flat) bones and/or axial skeleton\Thanatophoric dysplasia\Thanatophoric dysplasia, type 1 (disorder)
• \Disease\Fetal and/or neonatal disorder\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\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Lethal congenital disproportionate short limbed short stature (disorder)\Thanatophoric dysplasia\Thanatophoric dysplasia, type 1 (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Congenital skeletal dysplasia (disorder)\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 (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 (disorder)\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\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\Disorder of limb (disorder)\Congenital anomaly of limb\Lethal congenital disproportionate short limbed short stature (disorder)\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 malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Thanatophoric dysplasia\Thanatophoric dysplasia, type 1 (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital deformity\Lethal congenital disproportionate short limbed short stature (disorder)\Thanatophoric dysplasia\Thanatophoric dysplasia, type 1 (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\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\Congenital malformation\Congenital anomaly of limb\Lethal congenital disproportionate short limbed short stature (disorder)\Thanatophoric dysplasia\Thanatophoric dysplasia, type 1 (disorder)
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Disproportionate short stature (disorder)\Lethal congenital disproportionate short limbed 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:

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
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

Expanded Value Set

This concept is not in any reference sets

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