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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
38342014 Phocomelia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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 Only initial character 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
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 (disorder) Is a Congenital anomaly of limb false Inferred relationship Existential restriction modifier (core metadata concept)
Phocomelia (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Phocomelia (disorder) Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Phocomelia (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept)
Phocomelia (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Phocomelia (disorder) Finding site Musculoskeletal structure of limb (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Phocomelia (disorder) Is a Longitudinal deficiency of limb false Inferred relationship Existential restriction modifier (core metadata concept)
Phocomelia (disorder) Associated morphology Abnormally short growth false Inferred relationship Existential restriction modifier (core metadata concept) 2
Phocomelia (disorder) Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Phocomelia (disorder) Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Phocomelia (disorder) Is a Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept)
Phocomelia (disorder) Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Phocomelia (disorder) Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Phocomelia (disorder) Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Phocomelia (disorder) Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Phocomelia (disorder) Is a Congenital complete absence of limb false Inferred relationship Existential restriction modifier (core metadata concept)
Phocomelia (disorder) Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Phocomelia (disorder) Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Phocomelia (disorder) Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Phocomelia (disorder) Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Phocomelia (disorder) Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Phocomelia (disorder) Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Phocomelia (disorder) Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Phocomelia (disorder) Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Phocomelia (disorder) Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Phocomelia (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Phocomelia (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Phocomelia (disorder) Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Phocomelia (disorder) Associated morphology Abnormally short growth false Inferred relationship Existential restriction modifier (core metadata concept) 2
Phocomelia (disorder) Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Phocomelia (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Phocomelia (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Phocomelia (disorder) Associated morphology Abnormal shortening false Inferred relationship Existential restriction modifier (core metadata concept) 3
Phocomelia (disorder) Is a Partial congenital absence of limb true Inferred relationship Existential restriction modifier (core metadata concept)
Phocomelia (disorder) Finding site Extremity part false Inferred relationship Existential restriction modifier (core metadata concept) 2
Phocomelia (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Phocomelia (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Phocomelia (disorder) Finding site Extremity part true Inferred relationship Existential restriction modifier (core metadata concept) 1
Phocomelia (disorder) Associated morphology Absence (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Adactylia Is a False Phocomelia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
hémimélie Is a False Phocomelia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of all toes Is a False Phocomelia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Reduction deformity of upper limb Is a False Phocomelia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of finger Is a False Phocomelia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital complete absence of limb Is a False Phocomelia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of patella Is a False Phocomelia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of fibula Is a False Phocomelia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of tibia Is a False Phocomelia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ectrodactyly (disorder) Is a False Phocomelia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of calcaneus Is a False Phocomelia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of carpal bone Is a False Phocomelia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of forepaw phalanx Is a False Phocomelia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of hindpaw phalanx Is a False Phocomelia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of metacarpal bone Is a False Phocomelia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of metatarsal bone (disorder) Is a False Phocomelia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of talus Is a False Phocomelia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of tarsal bone Is a False Phocomelia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of paw Is a False Phocomelia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Bilateral congenital absence of feet Is a False Phocomelia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Agenesis of clavicle Is a False Phocomelia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Phocomelia of unspecified limb Is a False Phocomelia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Roberts-SC phocomelia syndrome Is a True Phocomelia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder) Is a True Phocomelia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
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 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Phocomelia of upper limb Is a True Phocomelia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Phocomelia of lower limb Is a True Phocomelia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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