FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 4.0.7  |  FHIR Version n/a  User: [n/a]

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
2q33.1 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 2
Impacted teeth with abnormal position Occurrence False Congenital Inferred relationship Some
Autosomal dominant congenital benign spinal muscular atrophy Occurrence True Congenital Inferred relationship Some 1
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Occurrence True Congenital Inferred relationship Some 4
Coloboma of superior eyelid Occurrence True Congenital Inferred relationship Some 1
Coloboma of inferior eyelid Occurrence True Congenital Inferred relationship Some 1
Submucous cleft of hard palate Occurrence True Congenital Inferred relationship Some 1
Cleft hard palate, central Occurrence True Congenital Inferred relationship Some 1
Cleft hard palate, bilateral Occurrence True Congenital Inferred relationship Some 1
Incomplete cleft hard and soft palate Occurrence True Congenital Inferred relationship Some 1
Cleft of soft palate Occurrence True Congenital Inferred relationship Some 1
Cleft soft palate, bilateral Occurrence True Congenital Inferred relationship Some 1
Complete cleft of soft palate Occurrence True Congenital Inferred relationship Some 1
Incomplete cleft of soft palate Occurrence True Congenital Inferred relationship Some 1
Occult submucous cleft palate Occurrence True Congenital Inferred relationship Some 1
Central incomplete cleft palate Occurrence True Congenital Inferred relationship Some 1
Cleft of hard palate Occurrence True Congenital Inferred relationship Some 1
Submucous cleft palate Occurrence True Congenital Inferred relationship Some 1
Central cleft of soft palate Occurrence True Congenital Inferred relationship Some 1
Charcot-Marie-Tooth disease type 4 Occurrence True Congenital Inferred relationship Some 1
Charcot-Marie-Tooth disease type 4A Occurrence True Congenital Inferred relationship Some 1
Charcot-Marie-Tooth disease type 4C Occurrence True Congenital Inferred relationship Some 1
Charcot-Marie-Tooth disease type 4D Occurrence True Congenital Inferred relationship Some 1
Charcot-Marie-Tooth disease type 4G Occurrence True Congenital Inferred relationship Some 1
Charcot-Marie-Tooth disease type 4B2 Occurrence True Congenital Inferred relationship Some 1
Charcot-Marie-Tooth disease type 4F Occurrence True Congenital Inferred relationship Some 1
Charcot-Marie-Tooth disease type 4H Occurrence True Congenital Inferred relationship Some 1
Charcot-Marie-Tooth disease type 4B1 Occurrence True Congenital Inferred relationship Some 1
Charcot-Marie-Tooth disease type 4J Occurrence True Congenital Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 4 Occurrence False Congenital Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 10 Occurrence False Congenital Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 6 Occurrence False Congenital Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 31 Occurrence False Congenital Inferred relationship Some 2
Bipartite talus Occurrence True Congenital Inferred relationship Some 1
Cleft palate, large ears, small head syndrome Occurrence True Congenital Inferred relationship Some 3
Chondroectodermal dysplasia with night blindness syndrome Occurrence True Congenital Inferred relationship Some 4
Charcot-Marie-Tooth disease type 4E Occurrence True Congenital Inferred relationship Some 1
Combined pancreatic lipase and colipase deficiency Occurrence True Congenital Inferred relationship Some 1
Conductive deafness, ptosis, skeletal anomalies syndrome Occurrence True Congenital Inferred relationship Some 2
Congenital ankylosis of temporomandibular joint Occurrence True Congenital Inferred relationship Some 1
Congenital trigeminal anaesthesia Occurrence True Congenital Inferred relationship Some 3
Distal trisomy 2q Occurrence True Congenital Inferred relationship Some 1
Distal trisomy 4q Occurrence True Congenital Inferred relationship Some 1
Distal trisomy 5q syndrome Occurrence True Congenital Inferred relationship Some 2
Distal trisomy 6q Occurrence True Congenital Inferred relationship Some 1
Distal trisomy 7p syndrome Occurrence True Congenital Inferred relationship Some 1
Distal trisomy 8q Occurrence True Congenital Inferred relationship Some 1
Facial dysmorphism, cleft palate, loose skin syndrome Occurrence True Congenital Inferred relationship Some 3
Adrenomyodystrophy Occurrence False Congenital Inferred relationship Some 1
Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital muscular dystrophy with hyperlaxity Occurrence False Congenital Inferred relationship Some 2
Congenital myopathy with myasthenic-like onset Occurrence True Congenital Inferred relationship Some 1
Congenital patent ductus arteriosus aneurysm Occurrence False Congenital Inferred relationship Some 2
Isolated congenital syngnathia Occurrence True Congenital Inferred relationship Some 1
Connective tissue disorder due to lysyl hydroxylase-3 deficiency Occurrence True Congenital Inferred relationship Some 2
Craniofaciofrontodigital syndrome Occurrence True Congenital Inferred relationship Some 3
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome Occurrence True Congenital Inferred relationship Some 2
Charcot-Marie-Tooth disease type 4B3 Occurrence True Congenital Inferred relationship Some 1
Fetal akinesia, cerebral and retinal haemorrhage syndrome Occurrence True Congenital Inferred relationship Some 2
X-linked Charcot-Marie-Tooth disease type 6 Occurrence True Congenital Inferred relationship Some 1
Spectrin-associated autosomal recessive cerebellar ataxia Occurrence True Congenital Inferred relationship Some 1
Cerebrofacioarticular syndrome Occurrence True Congenital Inferred relationship Some 2
Dentigerous cyst Occurrence False Congenital Inferred relationship Some
Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome Occurrence True Congenital Inferred relationship Some 1
Cleft cartilaginous centrum of cervical vertebra Occurrence False Congenital Inferred relationship Some
Cleft cartilaginous centrum of lumbar vertebra Occurrence False Congenital Inferred relationship Some
Cleft cartilaginous centrum of sacral vertebra Occurrence False Congenital Inferred relationship Some
Cleft cartilaginous centrum of thoracic vertebra Occurrence False Congenital Inferred relationship Some
Bipartite ossification of centrum of caudal vertebra Occurrence False Congenital Inferred relationship Some
Bipartite ossification of centrum of cervical vertebra Occurrence False Congenital Inferred relationship Some
Bipartite ossification of interparietal bone Occurrence False Congenital Inferred relationship Some
Bipartite ossification of centrum of lumbar vertebra Occurrence False Congenital Inferred relationship Some
Bipartite ossification of centrum of sacral vertebra Occurrence False Congenital Inferred relationship Some
Bipartite ossification of sternebra Occurrence False Congenital Inferred relationship Some
Bipartite ossification of supraoccipital bone Occurrence False Congenital Inferred relationship Some
Bipartite ossification of centrum of thoracic vertebra Occurrence False Congenital Inferred relationship Some
Congenital cleft of thymus Occurrence False Congenital Inferred relationship Some
Bilateral acheiria Occurrence False Congenital Inferred relationship Some
Neurofibromatosis type 2 Occurrence False Congenital Inferred relationship Some
Bilateral congenital absence of feet Occurrence False Congenital Inferred relationship Some
Bilateral crossbite Occurrence False Congenital Inferred relationship Some
Buccal crossbite Occurrence False Congenital Inferred relationship Some
Congenital bowing of tibia and/or fibula Occurrence False Congenital Inferred relationship Some
X-linked hereditary motor and sensory neuropathy Occurrence True Congenital Inferred relationship Some 1
X-linked hereditary spastic paraplegia Occurrence False Congenital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 48 Occurrence False Congenital Inferred relationship Some 2
Familial progressive hyperpigmentation and hypopigmentation of skin Occurrence False Congenital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 5A Occurrence False Congenital Inferred relationship Some 2
Autosomal spastic paraplegia type 30 Occurrence False Congenital Inferred relationship Some 2
X-linked Charcot-Marie-Tooth disease type 4 Occurrence True Congenital Inferred relationship Some 1
Ichthyosis prematurity syndrome Occurrence True Congenital Inferred relationship Some 1
Carcinoma in situ of ectopic female breast tissue Occurrence False Congenital Inferred relationship Some
Carcinoma in situ of ectopic male breast tissue Occurrence False Congenital Inferred relationship Some
Lethal multiple pterygium syndrome Occurrence True Congenital Inferred relationship Some 2
Lethal multiple pterygium syndrome Occurrence True Congenital Inferred relationship Some 3
Lethal multiple pterygium syndrome Occurrence True Congenital Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 11 Occurrence False Congenital Inferred relationship Some 2
Hereditary sensory and autonomic neuropathy with spastic paraplegia Occurrence False Congenital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 39 Occurrence False Congenital Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 36 Occurrence False Congenital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 44 Occurrence False Congenital Inferred relationship Some 2

Start Previous Page 301 of 329 Next End

Reference Sets

Qualifier value foundation reference set

Back to Start