47276000: Congenital absence of femur (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of thigh (disorder)\Congenital anomaly of femur\Congenital absence of femur (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb\Congenital anomaly of femur\Congenital absence of femur (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of femur\Congenital absence of femur (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of femur (disorder)
\constatation à propos de la structure d'un membre\Finding of lower limb\Finding of bone of lower limb (finding)\Congenital anomaly of femur\Congenital absence of femur (disorder)
\constatation à propos de la structure d'un membre\Finding of lower limb\Absence of lower limb (finding)\Congenital absence of femur (disorder)
\constatation à propos de la structure d'un membre\Finding of lower limb\Finding of thigh (finding)\Disorder of thigh (disorder)\Congenital anomaly of femur\Congenital absence of femur (disorder)
\constatation à propos de la structure d'un membre\Finding of lower limb\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of thigh (disorder)\Congenital anomaly of femur\Congenital absence of femur (disorder)
\constatation à propos de la structure d'un membre\Finding of lower limb\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb\Congenital anomaly of femur\Congenital absence of femur (disorder)

\Musculoskeletal finding\constatation à propos de l'os\Finding of bone of lower limb (finding)\Congenital anomaly of femur\Congenital absence of femur (disorder)
\Musculoskeletal finding\constatation à propos de l'os\Bone absent\Congenital absence of skeletal bone\Congenital absence of femur (disorder)
\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of femur (disorder)
\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of femur\Congenital absence of femur (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of femur (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of femur\Congenital absence of femur (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of femur (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of femur\Congenital absence of femur (disorder)

\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of femur (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of femur\Congenital absence of femur (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of femur (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of femur\Congenital absence of femur (disorder)
\Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of thigh (disorder)\Congenital anomaly of femur\Congenital absence of femur (disorder)
\Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb\Congenital anomaly of femur\Congenital absence of femur (disorder)
\Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of femur\Congenital absence of femur (disorder)
\Disease\affection d'une extrémité\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of femur (disorder)
\Disease\Congenital disease\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower limb\Congenital anomaly of femur\Congenital absence of femur (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of femur (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of femur\Congenital absence of femur (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of femur\Congenital absence of femur (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of femur (disorder)
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of femur (disorder)
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of femur\Congenital absence of femur (disorder)
\Disease\trouble du développement\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower limb\Congenital anomaly of femur\Congenital absence of femur (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Congenital absence of femur (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of femur\Congenital absence of femur (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of femur\Congenital absence of femur (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of femur (disorder)

Status: current, 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

1230437012 Congenital absence of thigh only en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

784716014 Congenital absence of femur (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

78811017 Congenital absence of femur en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

78812012 Proximal phocomelia of lower limb en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital absence of femur (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital absence of femur (disorder)	localisation d'une constatation (attribut)	Entire femur	false	Inferred relationship	Some	1
Congenital absence of femur (disorder)	morphologie associée (attribut)	Agenesis (morphologic abnormality)	false	Inferred relationship	Some	1
Congenital absence of femur (disorder)	morphologie associée (attribut)	Absence (morphologic abnormality)	true	Inferred relationship	Some	1
Congenital absence of femur (disorder)	localisation d'une constatation (attribut)	Structure of femur (body structure)	true	Inferred relationship	Some	1
Congenital absence of femur (disorder)	est un(e) (attribut)	Congenital anomaly of femur	true	Inferred relationship	Some
Congenital absence of femur (disorder)	est un(e) (attribut)	phocomélie d'un membre inférieur	false	Inferred relationship	Some
Congenital absence of femur (disorder)	est un(e) (attribut)	Congenital absence of skeletal bone	true	Inferred relationship	Some
Congenital absence of femur (disorder)	est un(e) (attribut)	Amelia	false	Inferred relationship	Some
Congenital absence of femur (disorder)	est un(e) (attribut)	Congenital absence of lower limb	false	Inferred relationship	Some
Congenital absence of femur (disorder)	morphologie associée (attribut)	Congenital absence	false	Inferred relationship	Some	1
Congenital absence of femur (disorder)	localisation d'une constatation (attribut)	fémur (structure corporelle)	false	Inferred relationship	Some	1
Congenital absence of femur (disorder)	est un(e) (attribut)	Bone absent	false	Inferred relationship	Some
Congenital absence of femur (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Congenital absence of femur (disorder)	localisation d'une constatation (attribut)	fémur (structure corporelle)	false	Inferred relationship	Some	2
Congenital absence of femur (disorder)	morphologie associée (attribut)	Congenital absence	false	Inferred relationship	Some	2
Congenital absence of femur (disorder)	est un(e) (attribut)	Incomplete congenital absence of thigh AND leg	false	Inferred relationship	Some
Congenital absence of femur (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Congenital absence of femur (disorder)	est un(e) (attribut)	Partial congenital absence of limb	true	Inferred relationship	Some
Congenital absence of femur (disorder)	est un(e) (attribut)	Absence of lower limb (finding)	true	Inferred relationship	Some
Congenital absence of femur (disorder)	localisation d'une constatation (attribut)	structure d'un membre	false	Inferred relationship	Some	2
Congenital absence of femur (disorder)	localisation d'une constatation (attribut)	Skeletal system structure	false	Inferred relationship	Some	2
Congenital absence of femur (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some
Congenital absence of femur (disorder)	morphologie associée (attribut)	Congenital absence	false	Inferred relationship	Some	1
Congenital absence of femur (disorder)	morphologie associée (attribut)	Congenital absence	false	Inferred relationship	Some	1
Congenital absence of femur (disorder)	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some
Congenital absence of femur (disorder)	morphologie associée (attribut)	Abnormally short growth	false	Inferred relationship	Some	2
Congenital absence of femur (disorder)	morphologie associée (attribut)	Abnormally short growth	false	Inferred relationship	Some	1
Congenital absence of femur (disorder)	localisation d'une constatation (attribut)	Musculoskeletal structure of lower limb	false	Inferred relationship	Some	1
Congenital absence of femur (disorder)	localisation d'une constatation (attribut)	fémur (structure corporelle)	false	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Agenesis of femur	est un(e) (attribut)	True	Congenital absence of femur (disorder)	Inferred relationship	Some
Complete phocomelia of lower limb (disorder)	est un(e) (attribut)	True	Congenital absence of femur (disorder)	Inferred relationship	Some
Transverse deficiency lower limb - through femur	est un(e) (attribut)	False	Congenital absence of femur (disorder)	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1230437012	Congenital absence of thigh only	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
784716014	Congenital absence of femur (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
78811017	Congenital absence of femur	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
78812012	Proximal phocomelia of lower limb	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core