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

55199003: Hypoplasia (morphologic abnormality)

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
91766011 Hypoplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
91769016 Hypocellularity en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
793513011 Hypoplasia (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hypoplasia Is a Maturation defect true Inferred relationship Some
Hypoplasia Is a anomalie du développement false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital hypoplasia of cerebral hemisphere Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of pars basalis of pons (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of eyebrow Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of brainstem Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of inferior vermis (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Facio-auriculo-vertebral spectrum (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Otomandibular dysostosis Associated morphology True Hypoplasia Inferred relationship Some 4
First and second branchial arch syndrome Associated morphology True Hypoplasia Inferred relationship Some 3
Congenital hypoplasia of bone of radius and/or ulna (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of bone structure of first rib (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of bone of head and neck of femur (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of bone of head and neck of femur (disorder) Associated morphology True Hypoplasia Inferred relationship Some 2
Congenital hypoplasia of bilateral breast (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of bilateral breast (disorder) Associated morphology True Hypoplasia Inferred relationship Some 2
Congenital hypoplasia of bone of pelvis (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of apex of nose (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of bone of extremity (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of bone of cranium (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of bone of lower limb (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of bone of upper limb (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of bone of thorax (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of bone of hand (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Hypoplasia of adrenal medulla (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of apocrine gland of axilla (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of auricular cartilage (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of biceps brachii muscle (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of areola (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of bone of sternum (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of dilator pupillae muscle (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of centrum of vertebra (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of cervical vertebral column (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of bridge of nose (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of clitoris (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of carotid artery (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of deciduous tooth (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of deltoid muscle (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of carotid canal (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of diaphragm (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of colon (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Hypoplasia of distal phalanx of foot Associated morphology True Hypoplasia Inferred relationship Some 1
Hypoplasia of distal phalanx of index finger (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Hypoplasia of distal phalanx of ring finger (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Hypoplasia of distal phalanx of third toe Associated morphology True Hypoplasia Inferred relationship Some 1
Hypoplasia of distal phalanx of middle finger Associated morphology True Hypoplasia Inferred relationship Some 1
Hypoplasia of distal phalanx of thumb Associated morphology True Hypoplasia Inferred relationship Some 1
Hypoplasia of distal phalanx of little finger Associated morphology True Hypoplasia Inferred relationship Some 1
Hypoplasia of distal phalanx of second toe Associated morphology True Hypoplasia Inferred relationship Some 1
Hypoplasia of distal phalanx of hand (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Hypoplasia of distal phalanx of fourth toe Associated morphology True Hypoplasia Inferred relationship Some 1
Hypoplasia of distal phalanx of great toe Associated morphology True Hypoplasia Inferred relationship Some 1
Hypoplasia of distal phalanx of fifth toe Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of great toe (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of helix of ear (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of facet joint of cervical spine (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of first metacarpal bone (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of external genitalia (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of eccrine gland (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of genital labium (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of fourth metacarpal bone (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of fifth metacarpal bone (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of glenoid cavity (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of limb (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of macula lutea (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of left side of chest (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of index finger (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of lacrimal gland (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of middle finger (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of internal carotid artery (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of little finger (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of male external genitalia (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of lesser trochanter of femur (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of latissimus dorsi muscle (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of left breast (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of middle phalanx of ring finger (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of middle phalanx of little finger (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of middle phalanx of index finger (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of middle phalanx of third toe (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of middle phalanx of middle finger (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of middle phalanx of finger (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of middle phalanx of foot (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of middle phalanx of second toe (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of middle phalanx of fourth toe (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of middle phalanx of fifth toe (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of middle third of face (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of muscle of thigh (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of muscle of upper arm (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of muscle of abdominal wall (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of muscle of limb (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of muscle of pelvis (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of muscle of neck (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of muscle of shoulder (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of muscle of upper limb (disorder) Associated morphology True Hypoplasia 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. Associated morphology True Hypoplasia 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. Associated morphology True Hypoplasia Inferred relationship Some 2
Congenital hypoplasia of optic tract (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of nail unit of thumb (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of nail unit of toe (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of nail unit of little finger (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of nail unit of fifth toe (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of nail unit (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1
Congenital hypoplasia of pectoralis minor muscle (disorder) Associated morphology True Hypoplasia Inferred relationship Some 1

Start Previous Page 9 of 10 End

This concept is not in any reference sets

Back to Start