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22841008: Phocomelia (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
38342014 Phocomelia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
38344010 Phocomelic dwarf en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
38345011 Congenital absence of proximal portion of limb en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
752295016 Phocomelia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
69831000077110 phocomélie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

10 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Phocomelia Is a Congenital anomaly of limb false Inferred relationship Some
Phocomelia Occurrence Congenital false Inferred relationship Some
Phocomelia Finding site Limb structure false Inferred relationship Some 1
Phocomelia Associated morphology anomalie du développement false Inferred relationship Some
Phocomelia Associated morphology Congenital absence false Inferred relationship Some 1
Phocomelia Finding site Musculoskeletal structure of limb false Inferred relationship Some
Phocomelia Is a Longitudinal deficiency of limb false Inferred relationship Some
Phocomelia Associated morphology Abnormally short growth (morphologic abnormality) false Inferred relationship Some 2
Phocomelia Finding site Limb structure false Inferred relationship Some 1
Phocomelia Finding site Limb structure false Inferred relationship Some 2
Phocomelia Is a Congenital malformation false Inferred relationship Some
Phocomelia Finding site Limb structure false Inferred relationship Some 2
Phocomelia Finding site Limb structure false Inferred relationship Some 1
Phocomelia Finding site Limb structure false Inferred relationship Some 1
Phocomelia Finding site Limb structure false Inferred relationship Some 2
Phocomelia Is a Congenital complete absence of limb false Inferred relationship Some
Phocomelia Finding site Limb structure false Inferred relationship Some 2
Phocomelia Finding site Limb structure false Inferred relationship Some 1
Phocomelia Finding site Limb structure false Inferred relationship Some 2
Phocomelia Finding site Limb structure false Inferred relationship Some 1
Phocomelia Finding site Limb structure false Inferred relationship Some 1
Phocomelia Finding site Limb structure false Inferred relationship Some 2
Phocomelia Finding site Limb structure false Inferred relationship Some 1
Phocomelia Finding site Limb structure false Inferred relationship Some 2
Phocomelia Finding site Limb structure false Inferred relationship Some 1
Phocomelia Associated morphology Congenital absence false Inferred relationship Some 1
Phocomelia Occurrence Congenital false Inferred relationship Some 2
Phocomelia Finding site Limb structure false Inferred relationship Some 2
Phocomelia Associated morphology Abnormally short growth (morphologic abnormality) false Inferred relationship Some 2
Phocomelia Finding site Limb structure false Inferred relationship Some 3
Phocomelia Associated morphology Congenital absence false Inferred relationship Some 2
Phocomelia Occurrence Congenital false Inferred relationship Some 3
Phocomelia Associated morphology Abnormal shortening false Inferred relationship Some 3
Phocomelia Is a Partial congenital absence of limb true Inferred relationship Some
Phocomelia Finding site Limb part (body structure) false Inferred relationship Some 2
Phocomelia Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Phocomelia Occurrence Congenital true Inferred relationship Some 1
Phocomelia Finding site Limb part (body structure) true Inferred relationship Some 1
Phocomelia Associated morphology Absence (morphologic abnormality) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Adactylia Is a False Phocomelia Inferred relationship Some
hémimélie Is a False Phocomelia Inferred relationship Some
Congenital absence of all toes Is a False Phocomelia Inferred relationship Some
Reduction deformity of upper limb Is a False Phocomelia Inferred relationship Some
Congenital absence of finger Is a False Phocomelia Inferred relationship Some
Congenital complete absence of limb Is a False Phocomelia Inferred relationship Some
Congenital absence of patella Is a False Phocomelia Inferred relationship Some
Congenital absence of fibula Is a False Phocomelia Inferred relationship Some
Congenital absence of tibia Is a False Phocomelia Inferred relationship Some
Ectrodactyly Is a False Phocomelia Inferred relationship Some
Congenital absence of calcaneus Is a False Phocomelia Inferred relationship Some
Congenital absence of carpal bone Is a False Phocomelia Inferred relationship Some
Congenital absence of forepaw phalanx Is a False Phocomelia Inferred relationship Some
Congenital absence of hindpaw phalanx Is a False Phocomelia Inferred relationship Some
Congenital absence of metacarpal bone Is a False Phocomelia Inferred relationship Some
Congenital absence of metatarsal bone Is a False Phocomelia Inferred relationship Some
Congenital absence of talus Is a False Phocomelia Inferred relationship Some
Congenital absence of tarsal bone Is a False Phocomelia Inferred relationship Some
Congenital absence of paw Is a False Phocomelia Inferred relationship Some
Bilateral congenital absence of feet Is a False Phocomelia Inferred relationship Some
Agenesis of clavicle Is a False Phocomelia Inferred relationship Some
Phocomelia of unspecified limb Is a False Phocomelia Inferred relationship Some
Roberts-SC phocomelia syndrome Is a True Phocomelia Inferred relationship Some
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder) Is a True Phocomelia Inferred relationship Some
A rare genetic syndrome with limb reduction defects characterized by skeletal malformations comprising absent or hypoplastic pelvic bones (including sacral agenesis or hypoplasia), intercalary limb deficiencies (phocomelia potentially combined with polydactyly, oligodactyly or ectrodactyly), and skull defects (frequently a defect of the occipital bone with or without meningocele). Additional features may include thoracic dystrophy, dysmorphic facial features (dysplastic and large ears, and a high and narrow palate), and genital malformations (Mullerian aplasia, agenesis of the uterus and vagina, micropenis with cryptorchidism). Growth and mental development are not affected. Is a True Phocomelia Inferred relationship Some
Phocomelia of upper limb Is a True Phocomelia Inferred relationship Some
Phocomelia of lower limb Is a True Phocomelia Inferred relationship Some

This concept is not in any reference sets

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