FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

255399007: Congenital (qualifier value)

Status: current, Not 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
380598010 Congenital en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
380599019 Congenita en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
646433016 Congenital (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
273731000077117 congénital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life false Inferred relationship Some
Congenital Is a Fetal and/or neonatal period true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital hypoplasia of auricular cartilage (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of biceps brachii muscle (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of areola (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of bone of sternum (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of apocrine gland of axilla (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of bridge of nose (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of carotid artery (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of carotid canal (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of centrum of vertebra (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of cervical vertebral column (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of dilator pupillae muscle (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of clitoris (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of deltoid muscle (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of diaphragm (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of colon (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of facet joint of cervical spine (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of external genitalia (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of eccrine gland (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of great toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of helix of ear (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of first metacarpal bone (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of genital labium (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of fourth metacarpal bone (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of fifth metacarpal bone (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of glenoid cavity (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of limb (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of macula lutea (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of left side of chest (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of index finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of lacrimal gland (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of middle finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of internal carotid artery (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of little finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of male external genitalia (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of lesser trochanter of femur (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of latissimus dorsi muscle (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of left breast (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of middle phalanx of ring finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of middle phalanx of little finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of middle phalanx of index finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of middle phalanx of third toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of middle phalanx of middle finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of middle phalanx of finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of middle phalanx of foot (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of middle phalanx of second toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of middle phalanx of fourth toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of middle phalanx of fifth toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of middle third of face (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of muscle of thigh (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of muscle of upper arm (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of muscle of abdominal wall (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of muscle of limb (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of muscle of pelvis (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of muscle of neck (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of muscle of shoulder (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of muscle of upper limb (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare acid sphingomyelinase deficiency characterized by mild to massive hepatosplenomegaly, hypersplenism leading to thrombocytopenia, interstitial lung disease, dyslipidemia and central nervous system manifestations (including developmental delay, intellectual disability and ataxia). Some affected individuals may present with coarse facial features. Occurrence True Congenital Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by pontocerebellar hypoplasia, hypotonia and respiratory insufficiency. Cardiac anomalies (particularly hypertrophic cardiomyopathy), eye manifestations (congenital cataracts, corneal clouding), seizures and facial dysmorphism (including microcephaly, bitemporal narrowing, absence of eyelashes, short palpebral fissures, small and low-set ears, anteverted nares, microstomia, and micrognathia) are present in the majority of the patients. Additional findings such as hepatosplenomegaly, edema, micropenis/cryptorchidism, hypoglycemia, hypernatremia, increased triglycerides, elevated plasma lactate and decreased plasma cholesterol were reported. Brain imaging may reveal simplified/delayed cortical gyration, dilated ventricles, and periventricular or diffuse white matter abnormalities. It is mostly caused by biallelic deletions in the ATAD3 gene cluster (ATAD3A, ATAD3B and ATAD3C) or by point mutations in the ATAD3A gene. Even though the syndrome is mostly neonatally lethal, some patients, regardless of the type of the mutation/deletion they harbor, may have a less severe condition and may survive. Occurrence True Congenital Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by pontocerebellar hypoplasia, hypotonia and respiratory insufficiency. Cardiac anomalies (particularly hypertrophic cardiomyopathy), eye manifestations (congenital cataracts, corneal clouding), seizures and facial dysmorphism (including microcephaly, bitemporal narrowing, absence of eyelashes, short palpebral fissures, small and low-set ears, anteverted nares, microstomia, and micrognathia) are present in the majority of the patients. Additional findings such as hepatosplenomegaly, edema, micropenis/cryptorchidism, hypoglycemia, hypernatremia, increased triglycerides, elevated plasma lactate and decreased plasma cholesterol were reported. Brain imaging may reveal simplified/delayed cortical gyration, dilated ventricles, and periventricular or diffuse white matter abnormalities. It is mostly caused by biallelic deletions in the ATAD3 gene cluster (ATAD3A, ATAD3B and ATAD3C) or by point mutations in the ATAD3A gene. Even though the syndrome is mostly neonatally lethal, some patients, regardless of the type of the mutation/deletion they harbor, may have a less severe condition and may survive. Occurrence True Congenital Inferred relationship Some 2
Congenital choroidal fold of left eye (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital choroidal fold of right eye (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital choroidal fold of bilateral eyes (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital choroidal fold of bilateral eyes (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital hypoplasia of nail unit of thumb (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of nail unit of little finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of nail unit of fifth toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of nail unit (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of nail unit of toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital dolichostenomelia Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of optic tract (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of palmar crease (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of olfactory tract (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of pectoralis minor muscle (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of pectoral muscle (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of pectoralis major muscle (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of phalanx of great toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of phalanx of fourth toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of phalanx of index finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of phalanx of fifth toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of phalanx of foot (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of phalanx of hand (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of phalanx of second toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of phalanx of ring finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of phalanx of middle finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of phalanx of little finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of phalanx of third toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of phalanx of thumb (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of proximal phalanx of great toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of proximal phalanx of foot (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of proximal epiphysis of femur (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of proximal phalanx of index finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of posterior crural muscle (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of proximal phalanx of hand (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of pilosebaceous apparatus (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of posterior communicating artery (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of proximal phalanx of ring finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of proximal phalanx of middle finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of proximal phalanx of little finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of proximal phalanx of third toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of proximal phalanx of thumb (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of quadriceps femoris muscle (disorder) Occurrence True Congenital Inferred relationship Some 1

Start Previous Page 341 of 344 Next End

This concept is not in any reference sets

Back to Start