17144009: Fibrochondrogenesis (disorder)

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

\Finding by site\Disorder by body site (disorder)\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Fibrochondrogenesis
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Fibrochondrogenesis
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Chondrodysplasia (disorder)\Fibrochondrogenesis
\Finding by site\Disorder by body site (disorder)\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\Chondrodysplasia (disorder)\Fibrochondrogenesis
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia (disorder)\Fibrochondrogenesis
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)\Fibrochondrogenesis
\Finding by site\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)\Fibrochondrogenesis
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Fibrochondrogenesis
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Chondrodysplasia (disorder)\Fibrochondrogenesis
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)\Fibrochondrogenesis
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia (disorder)\Fibrochondrogenesis
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)\Fibrochondrogenesis

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Fibrochondrogenesis
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Fibrochondrogenesis
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Fibrochondrogenesis
\Disease\Disorder by body site (disorder)\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Fibrochondrogenesis
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Fibrochondrogenesis
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Chondrodysplasia (disorder)\Fibrochondrogenesis
\Disease\Disorder by body site (disorder)\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\Chondrodysplasia (disorder)\Fibrochondrogenesis
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia (disorder)\Fibrochondrogenesis
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)\Fibrochondrogenesis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia (disorder)\Fibrochondrogenesis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)\Fibrochondrogenesis
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)\Fibrochondrogenesis
\Disease\Developmental disorder\Developmental hereditary disorder\Fibrochondrogenesis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia (disorder)\Fibrochondrogenesis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)\Fibrochondrogenesis

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module	Reference Sets
28994014	Fibrochondrogenesis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
744305018	Fibrochondrogenesis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
3784134011	Fibrochondrogenesis is a rare neonatally lethal rhizomelic chondrodysplasia. The face is distinctive with characteristics of protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins has been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
1128111000052118	fibrokondrogenes	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)	Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Fibrochondrogenesis	Is a	Metatropic dysplasia	false	Inferred relationship	Some
Fibrochondrogenesis	Finding site	Bone structure	true	Inferred relationship	Some	1
Fibrochondrogenesis	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Fibrochondrogenesis	Occurrence	Congenital	false	Inferred relationship	Some
Fibrochondrogenesis	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Fibrochondrogenesis	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Fibrochondrogenesis	Associated morphology	medfödd missbildning	false	Inferred relationship	Some
Fibrochondrogenesis	Finding site	Bone structure	false	Inferred relationship	Some	1
Fibrochondrogenesis	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Fibrochondrogenesis	Occurrence	Congenital	false	Inferred relationship	Some	2
Fibrochondrogenesis	Finding site	Bone structure	false	Inferred relationship	Some	2
Fibrochondrogenesis	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	2
Fibrochondrogenesis	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Fibrochondrogenesis	Occurrence	Congenital	true	Inferred relationship	Some	1
Fibrochondrogenesis	Is a	Autosomal hereditary disorder	true	Inferred relationship	Some
Fibrochondrogenesis	Is a	Chondrodysplasia (disorder)	true	Inferred relationship	Some
Fibrochondrogenesis	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Fibrochondrogenesis	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
korta revben-polydaktylisyndrom typ 1	Is a	False	Fibrochondrogenesis	Inferred relationship	Some
Short rib-polydactyly syndrome, Majewski type	Is a	False	Fibrochondrogenesis	Inferred relationship	Some
Dyggve-Melchior-Clausen syndrome	Is a	False	Fibrochondrogenesis	Inferred relationship	Some
Short rib-polydactyly syndrome, Majewski type	Is a	False	Fibrochondrogenesis	Inferred relationship	Some

This concept is not in any reference sets

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