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127328006: Congenital absence of skeletal bone (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
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
4786821000241114 absence congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

273 descendants. Search Descendants:

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
Podencephalus 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
Acephalorhachia 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 (disorder) 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
anomalie transverse du bras au niveau de l'avant-bras 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
Congenital absence of arch of caudal vertebra Is a False Congenital absence of skeletal bone Inferred relationship Some
Congenital absence of arch of cervical vertebra 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
Hemicentric caudal centrum Is a False Congenital absence of skeletal bone Inferred relationship Some
Hemicentric cervical centrum Is a False Congenital absence of skeletal bone Inferred relationship Some
Unilateral cartilaginous centrum of cervical vertebra Is a False Congenital absence of skeletal bone Inferred relationship Some
Agenesis of tarsals and metatarsals 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 True 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
Congenital absence of caudal vertebra Is a False Congenital absence of skeletal bone Inferred relationship Some
Holoanencephaly (disorder) Is a False Congenital absence of skeletal bone Inferred relationship Some
Acephalorhachia 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
Hemicentric sacral centrum 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
Hemicentric lumbar centrum Is a False Congenital absence of skeletal bone Inferred relationship Some
Hemicentric thoracic centrum Is a False Congenital absence of skeletal bone Inferred relationship Some
Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia. 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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