127328006: Congenital absence of skeletal bone (disorder)

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

\Musculoskeletal finding\Bone finding\Bone absent\Congenital absence of skeletal bone
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone
\Disease\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\Congenital absence of skeletal bone
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone

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

616010 Congenital absence of skeletal bone en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

731403011 Congenital absence of skeletal bone (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2081291000005119 Kongenit manglende skeletknogle da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital absence of skeletal bone	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Congenital absence of skeletal bone	Is a	Disorder of skeletal system	false	Inferred relationship	Some
Congenital absence of skeletal bone	Occurrence	Congenital	false	Inferred relationship	Some
Congenital absence of skeletal bone	Finding site	Skeletal system structure	false	Inferred relationship	Some	2
Congenital absence of skeletal bone	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Congenital absence of skeletal bone	Finding site	Bone structure	true	Inferred relationship	Some	1
Congenital absence of skeletal bone	Is a	Congenital malformation	false	Inferred relationship	Some
Congenital absence of skeletal bone	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Congenital absence of skeletal bone	Finding site	Bone structure	false	Inferred relationship	Some	1
Congenital absence of skeletal bone	Is a	Bone absent	true	Inferred relationship	Some
Congenital absence of skeletal bone	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital absence of skeletal bone	Finding site	Bone structure	false	Inferred relationship	Some	2
Congenital absence of skeletal bone	Is a	Congenital absence	false	Inferred relationship	Some
Congenital absence of skeletal bone	Associated morphology	Congenital absence	false	Inferred relationship	Some	2
Congenital absence of skeletal bone	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital absence of skeletal bone	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital absence of skeletal bone	Associated morphology	Absence (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital absence of sternum	Is a	True	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital absence of vertebra	Is a	True	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital absence of femur	Is a	True	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital absence of humerus	Is a	True	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital absence of ulna	Is a	True	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital absence of patella	Is a	True	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital absence of rib	Is a	True	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital absence of fibula	Is a	True	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital absence of tibia	Is a	True	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital absence of skull bone	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital absence of radius	Is a	True	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital absence of carpal bone	Is a	True	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital absence of ilium	Is a	True	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital absence of ischium	Is a	True	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital absence of metacarpal bone	Is a	True	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital absence of metatarsal bone	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital absence of premaxilla	Is a	True	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital absence of pubis	Is a	True	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital absence of scapula	Is a	True	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital absence of talus	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital absence of tarsal bone	Is a	True	Congenital absence of skeletal bone	Inferred relationship	Some
Agenesis of clavicle	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Podencefalus	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital absence of ossicles of ear	Is a	True	Congenital absence of skeletal bone	Inferred relationship	Some
kongenit manglende hoved og rygmarv	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Anencephalus	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital absence of calcaneus	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital absence of forepaw phalanx	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital absence of hindpaw phalanx	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital absence of thoracic vertebra	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital absence of tympanic anulus	Is a	True	Congenital absence of skeletal bone	Inferred relationship	Some
Thoracic hemivertebra	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital absence of cranial vault	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital absence of vertebra	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Transversel ameli af arm på underarmsniveau	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Transverse deficiency lower limb - through tibia/fibula	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Ectromelia	Is a	True	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital hemivertebra	Is a	True	Congenital absence of skeletal bone	Inferred relationship	Some
kongenit manglende cokcygealhvirvelbue	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital absence of arch of cervical vertebra (disorder)	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital absence of lumbar vertebra	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital absence of sacral vertebra	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
hemicentrisk centrum i sakralhvirvels corpus vertebrae	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
hemicentrisk centrum i halshvirvels corpus vertebrae	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Unilateralt bruskcentrum i halshvirvel	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Agenesi af tarsalknogler og metatarsalknogler	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital absence of hyoid bone	Is a	True	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital absence of mandible	Is a	True	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital absence of pelvis and lower limb	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital absence of maxilla	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital absence of metatarsal bone	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital absence of tarsal bone	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Holoanencephaly (disorder)	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Hemianencephaly	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital absence of sternebra	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital absence of squamosal bone	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Partial aphalangia of lower limb	Is a	True	Congenital absence of skeletal bone	Inferred relationship	Some
Complete aphalangia of lower limb	Is a	True	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital absence of vomer	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital absence of lacrimal bone	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital absence of supraoccipital bone	Is a	True	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital absence of presphenoid bone	Is a	True	Congenital absence of skeletal bone	Inferred relationship	Some
kongenit manglende cokcygealhvirvel	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Holoanencephaly (disorder)	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
kongenit manglende hoved og rygmarv	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital absence of skull bone	Is a	True	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital absence of basisphenoid bone	Is a	True	Congenital absence of skeletal bone	Inferred relationship	Some
Partial aphalangia of upper limb	Is a	True	Congenital absence of skeletal bone	Inferred relationship	Some
An extremely rare congenital limb malformation syndrome, described in only 3 patients to date, characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991.	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993.	Is a	True	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital tibial deficiency type III	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital tibial deficiency type I	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Acrania	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital absence of tibia and fibula	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital absence of right mandibular condyle	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Congenital absence of left mandibular condyle	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Longitudinal absence of radius AND ulna	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
hemicentrisk centrum i sakralhvirvels corpus vertebrae	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Transverse arrest carpal level	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Transverse arrest metacarpal first ray	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Transverse arrest metacarpal second to fifth rays	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Complete aphalangia of upper limb	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
hemicentrisk lændehvirvels corpus vertebrae	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
hemicentrisk centrum i brysthvirvels corpus vertebrae	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
A rare genetic syndrome with characteristics of limb shortening and abnormalities of the head, face and external genitalia. Two forms of the syndrome with different patterns of inheritance and variable frequency of clinical signs have been described: a milder autosomal dominant form and a more severe autosomal recessive form. The syndrome has a wide clinical spectrum. Transmission is autosomal dominant or recessive.	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles.	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Aplasia of patella	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Sacral agenesis	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Agenesis of ilium	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Agenesis of pubis	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Agenesis of ischium	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Agenesis of scapula (disorder)	Is a	False	Congenital absence of skeletal bone	Inferred relationship	Some
Aplasia of bone structure of extremity	Is a	True	Congenital absence of skeletal bone	Inferred relationship	Some
Aplasia of bone of thorax	Is a	True	Congenital absence of skeletal bone	Inferred relationship	Some
Aplasia of bone of pelvis	Is a	True	Congenital absence of skeletal bone	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
616010	Congenital absence of skeletal bone	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
731403011	Congenital absence of skeletal bone (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2081291000005119	Kongenit manglende skeletknogle	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)