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255399007: Congenital (qualifier value)


Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
380598010 Congenital en Synonym Active Case insensitive SNOMED CT core
380599019 Congenita en Synonym Active Case insensitive SNOMED CT core
646433016 Congenital (qualifier value) en Fully specified name Active Case insensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital knee joint deformity NOS Occurrence False Congenital Inferred relationship Some
Other congenital anomalies of toe Occurrence False Congenital Inferred relationship Some
Brachyphalangia of other toes Occurrence False Congenital Inferred relationship Some
Other toe anomalies NOS Occurrence False Congenital Inferred relationship Some
Congenital anomalies of foot NEC Occurrence False Congenital Inferred relationship Some
Anomalies of foot NEC NOS Occurrence False Congenital Inferred relationship Some
Brachymetapodia of other metatarsal Occurrence False Congenital Inferred relationship Some
Other congenital anomalies of lower leg Occurrence False Congenital Inferred relationship Some
Other congenital anomalies of upper leg Occurrence False Congenital Inferred relationship Some
Other congenital anomalies of pelvis Occurrence False Congenital Inferred relationship Some
Congenital absence of pubis NEC Occurrence False Congenital Inferred relationship Some
Other congenital anomalies of pelvis NOS Occurrence False Congenital Inferred relationship Some
Other lower limb anomalies Occurrence False Congenital Inferred relationship Some
Other lower limb and pelvic girdle anomaly NOS Occurrence False Congenital Inferred relationship Some
Other specified anomalies of unspecified limb Occurrence False Congenital Inferred relationship Some
Arthrogryposis, unspecified Occurrence False Congenital Inferred relationship Some
Other arthrogryposis syndromes Occurrence False Congenital Inferred relationship Some
Other anomaly of unspecified limb NOS Occurrence False Congenital Inferred relationship Some
Congenital anomaly of unspecified limb NOS Occurrence False Congenital Inferred relationship Some
Other congenital musculoskeletal anomalies Occurrence False Congenital Inferred relationship Some
Other anomaly of skull or face bone NOS Occurrence False Congenital Inferred relationship Some
Anomaly of spine, unspecified Occurrence False Congenital Inferred relationship Some
Congenital absence of vertebra NOS Occurrence False Congenital Inferred relationship Some
Hemivertebra NOS Occurrence False Congenital Inferred relationship Some
Klippel-Feil syndrome NOS Occurrence False Congenital Inferred relationship Some
Congenital anomalies of cervical vertebrae NEC Occurrence False Congenital Inferred relationship Some
Congenital anomaly of cervical vertebrae NEC NOS Occurrence False Congenital Inferred relationship Some
Congenital anomalies of thoracic vertebrae NEC Occurrence False Congenital Inferred relationship Some
Congenital anomaly of thoracic vertebrae NEC NOS Occurrence False Congenital Inferred relationship Some
Congenital anomalies of lumbar vertebrae NEC Occurrence False Congenital Inferred relationship Some
Congenital anomaly of lumbar vertebra NEC NOS Occurrence False Congenital Inferred relationship Some
Congenital sacrococcygeal anomalies NEC Occurrence False Congenital Inferred relationship Some
Congenital sacrococcygeal anomaly NOS Occurrence False Congenital Inferred relationship Some
Congenital absence of spine NEC Occurrence False Congenital Inferred relationship Some
Other anomaly of spine NOS Occurrence False Congenital Inferred relationship Some
Anomalies of spine NOS Occurrence False Congenital Inferred relationship Some
Other rib and sternum anomalies Occurrence False Congenital Inferred relationship Some
Other congenital anomalies of ribs Occurrence False Congenital Inferred relationship Some
Other congenital anomalies of sternum Occurrence False Congenital Inferred relationship Some
Chondrodysplasia, unspecified Occurrence False Congenital Inferred relationship Some
Dyschondroplasia NOS Occurrence False Congenital Inferred relationship Some
Other specified dwarfing syndromes Occurrence False Congenital Inferred relationship Some
Other dwarfing syndromes NOS Occurrence False Congenital Inferred relationship Some
Other lethal retarded ossification syndromes Occurrence False Congenital Inferred relationship Some
Chondrodysplasia NOS Occurrence False Congenital Inferred relationship Some
Osteodysplasia, unspecified Occurrence False Congenital Inferred relationship Some
Osteogenesis imperfecta NOS Occurrence False Congenital Inferred relationship Some
Multiple epiphyseal dysplasia NOS Occurrence False Congenital Inferred relationship Some
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 1
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 2
13q12.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 2
13q12.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
13q12.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 3
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 2
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 3
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 1
Other osteodysplasia NOS Occurrence False Congenital Inferred relationship Some
Other specified anomalies of diaphragm Occurrence False Congenital Inferred relationship Some
Diaphragm anomalies NOS Occurrence False Congenital Inferred relationship Some
Other specified anomaly of abdominal wall Occurrence False Congenital Inferred relationship Some
14q24.1q24.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
14q24.1q24.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 3
Abdominal wall anomaly NOS Occurrence False Congenital Inferred relationship Some
14q24.1q24.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 2
Other specified muscle, tendon and fascia anomaly Occurrence False Congenital Inferred relationship Some
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome Occurrence True Congenital Inferred relationship Some 1
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome Occurrence True Congenital Inferred relationship Some 2
Other anomaly of tendon, fascia or muscle NOS Occurrence False Congenital Inferred relationship Some
Other muscle, tendon or fascia anomalies NOS Occurrence False Congenital Inferred relationship Some
Unspecified anomaly of muscle Occurrence False Congenital Inferred relationship Some
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome Occurrence True Congenital Inferred relationship Some 3
Unspecified anomaly of tendon Occurrence False Congenital Inferred relationship Some
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome Occurrence True Congenital Inferred relationship Some 1
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome Occurrence True Congenital Inferred relationship Some 2
Unspecified anomaly of bones Occurrence False Congenital Inferred relationship Some
Unspecified anomaly of cartilage Occurrence False Congenital Inferred relationship Some
Unspecified anomaly of connective tissue Occurrence False Congenital Inferred relationship Some
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 2
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 1
Epidermolysis bullosa simplex due to exophilin 5 deficiency Occurrence True Congenital Inferred relationship Some 1
Congenital ichthyosis, unspecified Occurrence False Congenital Inferred relationship Some
Other specified ichthyosis congenita Occurrence False Congenital Inferred relationship Some
Epidermolysis bullosa simplex due to BP230 deficiency Occurrence True Congenital Inferred relationship Some 1
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome Occurrence True Congenital Inferred relationship Some 2
Dermatoglyphic anomalies NOS Occurrence False Congenital Inferred relationship Some
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome Occurrence True Congenital Inferred relationship Some 1
Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome Occurrence True Congenital Inferred relationship Some 1
Other specified skin anomalies Occurrence False Congenital Inferred relationship Some
Birth mark, unspecified Occurrence False Congenital Inferred relationship Some
Vascular hamartoma NOS Occurrence False Congenital Inferred relationship Some
Congenital pigmentary skin anomaly NOS Occurrence False Congenital Inferred relationship Some
Congenital alopecia, unspecified Occurrence False Congenital Inferred relationship Some
Congenital alopecia NOS Occurrence False Congenital Inferred relationship Some
Specified hair anomalies NOS Occurrence False Congenital Inferred relationship Some
Specified nail anomalies NOS Occurrence False Congenital Inferred relationship Some
Specified breast anomalies NOS Occurrence False Congenital Inferred relationship Some
Other specified integument anomaly Occurrence False Congenital Inferred relationship Some
Unspecified congenital anomalies of hair Occurrence False Congenital Inferred relationship Some
Other deletions of part of a chromosome Occurrence False Congenital Inferred relationship Some
Other deletion of part of a chromosome NOS Occurrence False Congenital Inferred relationship Some
Deletions with other complex rearrangements Occurrence False Congenital Inferred relationship Some

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Reference Sets

Qualifier value foundation reference set

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